Tag

Carrier Status

167 genetic variants with this tag.

RSID	Gene	Description	Category
rs1057516616	F11 c.25_28del (p.His9fs)	Frameshift deletion in coagulation factor XI causing complete loss of the FXI...	Coagulation & Clotting Factors	Carrier Status	Strong
rs104893665	SPR Arg150Gly	Pathogenic missense variant in sepiapterin reductase that abolishes BH4 biosy...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs104894135	CYP17A1 Ser106Pro	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Carrier Status	Established
rs1057517151	F11 c.291del (p.Tyr98fs)	Frameshift deletion in coagulation factor XI causing likely-pathogenic partia...	Coagulation & Clotting Factors	Carrier Status	Moderate
rs121434287	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing ...	Iron & Mineral Transport	Carrier Status	Established
rs104894136	CYP17A1 Arg239*	Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ...	Reproductive Hormones	Carrier Status	Established
rs104894502	TPM1 E180G	Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familia...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Carrier Status	Strong
rs121434288	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Carrier Status	Established
rs121965063	F11 Glu117Stop (Type II)	Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing s...	Coagulation & Clotting Factors	Carrier Status	Established
rs104894503	TPM1 D175N (Asp175Asn)	Pathogenic alpha-tropomyosin missense variant that increases thin filament ca...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs115532916	ACAD9 ACAD9 Ala326Pro	Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causin...	Metabolic Enzymes & Rare Disorders	Carrier Status	Strong
rs118204017	ACADVL	ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ...	Liver Fat	Carrier Status	Strong
rs121434289	SLC39A4 Gly374Arg	Missense variant in ZIP4 zinc transporter causing total loss of intestinal zi...	Iron & Mineral Transport	Carrier Status	Established
rs121909567	SERPINC1 Budapest 3 (Leu131Phe)	Pathogenic missense in antithrombin III; the A allele causes type II heparin-...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs121965064	F11 Phe301Leu (Type III)	Ashkenazi Jewish founder missense mutation in coagulation factor XI causing i...	Coagulation & Clotting Factors	Carrier Status	Established
rs1060502576	BMPR2	Rare stop-gain variant in BMPR2 (p.Trp466Ter) that truncates the kinase domai...	Vascular Inflammation & Remodeling	Carrier Status	Established
rs118204437	GALNS Arg386Cys	Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carri...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs121434290	SLC39A4 SLC39A4 p.Asn106Lys	Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygo...	Iron & Mineral Transport	Carrier Status	Established
rs121917746	SPR Q119X	Nonsense variant in sepiapterin reductase that abolishes BH4 biosynthesis, ca...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs104894005	GCK Glu279Ter (MODY2)	Pathogenic glucokinase nonsense variant introducing a premature stop codon th...	Blood Sugar & Diabetes	Carrier Status	Established
rs104894141	CYP17A1 W17X	Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α...	Reproductive Hormones	Carrier Status	Established
rs1060502581	BMPR2	Nonsense variant in BMPR2 introducing a premature stop codon (p.Arg321Ter) th...	Vascular Inflammation & Remodeling	Carrier Status	Established
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs121434291	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Carrier Status	Established
rs121917747	SPR	Nonsense variant in sepiapterin reductase creating a premature stop codon (p....	Vitamins & Nutrient Absorption	Carrier Status	Established
rs104894007	GCK Thr228Met (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Carrier Status	Established
rs104894797	DMD Arg3182Ter (R3182*)	Pathogenic nonsense variant in dystrophin creating a premature stop codon at ...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Carrier Status	Strong
rs121434292	SLC39A4 Arg95Cys	Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter,...	Iron & Mineral Transport	Carrier Status	Established
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Carrier Status	Established
rs104894396	GJB2 W24X	Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea...	Neurology & Cognition	Carrier Status	Established
rs104894805	EMD Pro183His (P183H)	Pathogenic missense variant in emerin that weakens nuclear lamina interaction...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs121434293	SLC39A4 SLC39A4 Gln278His	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing a...	Iron & Mineral Transport	Carrier Status	Established
rs121918383	APOB APOB Arg1333Ter	Nonsense mutation in APOB creating a premature stop codon at position 1333, t...	Cholesterol & Lipoproteins	Carrier Status	Strong
rs199673455	GPD1	Pathogenic missense variant in glycerol-3-phosphate dehydrogenase 1; homozygo...	Liver Fat	Carrier Status	Strong
rs121434282	ACADM Arg281Thr	Pathogenic missense variant in the MCAD enzyme causing medium-chain acyl-CoA ...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs121918384	APOB APOB Val1856fs	Frameshift deletion in APOB causing truncated apolipoprotein B-100, reducing ...	Cholesterol & Lipoproteins	Carrier Status	Strong
rs104894011	GCK Glu265Lys (MODY2)	Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ...	Blood Sugar & Diabetes	Carrier Status	Established
rs1057518309	DSP Arg451Gly	Rare pathogenic missense variant in desmoplakin that enhances calpain-mediate...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs121434369	GCDH R402W (Arg402Trp)	Most common European allele for glutaric acidemia type 1; complete loss of GC...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs28937319	SCN5A SCN5A Cardiac Sodium Channel Variant 2	Rare loss-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Carrier Status	Strong
rs111517471	PKP2	Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs121918386	APOB APOB Arg2085Ter	Nonsense mutation in APOB creating a premature stop codon at position 2085, p...	Cholesterol & Lipoproteins	Carrier Status	Strong
rs201363394	SERPING1 Arg400Cys	Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys ...	B-Cell Immunity & Antibody-Mediated Disease	Carrier Status	Established
rs11570112	MYBPC3 Gln998X	Pathogenic truncating variant in cardiac myosin-binding protein C causing hap...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs121908677	SLC7A7 SLC7A7 p.Gly54Val	Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs148234606	SLC52A2 Leu339Pro	Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishe...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs200482978	SLC39A4	Pathogenic nonsense variant in the intestinal zinc transporter ZIP4, creating...	Iron & Mineral Transport	Carrier Status	Established
rs121918388	APOB APOB Q2279X	Nonsense variant creating a premature stop codon at amino acid 2279 of apolip...	Cholesterol & Lipoproteins	Carrier Status	Strong
rs137852690	STAR A218V	STAR missense variant abolishing steroidogenic activity; homozygous carriers ...	Reproductive Hormones	Carrier Status	Established
rs137852769	HADHA p.Glu510Gln	Most common LCHAD deficiency variant; homozygosity causes severe mitochondria...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs201038679	ATP7B P992L	Pathogenic missense variant in the copper transporter ATP7B; heterozygous car...	Iron & Mineral Transport	Carrier Status	Established
rs128627256	DMD Arg2905Ter (R2905X)	Nonsense variant in dystrophin that eliminates full-length protein, causing X...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs182506368	SLC39A4 SLC39A4 p.Ala99Thr	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs201007090	F11 Trp519Stop	Nonsense mutation in coagulation factor XI creating a premature stop codon, c...	Coagulation & Clotting Factors	Carrier Status	Established
rs137853097	HSD17B4 N457Y	Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein;...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs140597	FBN1 D1113G	Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs201227603	HPS3 HPS3 Splice Donor Variant	Splice donor variant in HPS3 that disrupts exon 5 inclusion, causing Hermansk...	Innate Immunity & Infection Defense	Carrier Status	Established
rs397508072	KCNQ1 Q356X	Nonsense mutation in the cardiac IKs potassium channel causing premature prot...	Arrhythmia & Heart Rhythm	Carrier Status	Established
rs515726176	CPT2	Rare CPT2 missense variant (p.Arg382Thr) that reduces carnitine palmitoyltran...	Liver Fat	Carrier Status	Moderate
rs142967670	GCDH R88C	Pathogenic missense variant in glutaryl-CoA dehydrogenase; homozygosity cause...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs1600482909	JPH2 Ser101Arg	Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs199971687	MMAB	Pathogenic splice acceptor variant in MMAB that abolishes adenosylcobalamin s...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs267607326	VWF Y1146C	Pathogenic missense variant in the VWF D3 domain causing von Willebrand disea...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs34612342	MUTYH Y179C	Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associ...	Cancer Risk	Carrier Status	Established
rs187830361	MYBPC3 Trp792Arg (W792R)	Ultra-rare pathogenic missense variant in the C6 fibronectin domain of cardia...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs267607352	VWF W1745C	Missense variant in the VWF A3 collagen-binding domain causing isolated colla...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs36053993	MUTYH G396D	Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH...	Cancer Risk	Carrier Status	Established
rs397508077	KCNQ1 Long QT Type 1 Variant 4 (c.1124_1127del)	Pathogenic 4bp frameshift deletion in KCNQ1 that eliminates the IKs potassium...	Arrhythmia & Heart Rhythm	Carrier Status	Established
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs193922239	FBN1	Pathogenic missense variant in fibrillin-1 replacing glycine 2627 with argini...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs267607353	VWF S1783A	Rare pathogenic missense variant in the VWF A3 collagen-binding domain causin...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs1801175	G6PC1	Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs193922385	MYBPC3 Arg177Cys	A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-bin...	Cardiomyopathy & Structural Heart	Carrier Status	Emerging
rs193922680	ACTC1 ACTC1 p.Glu101Lys	Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic c...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs28934880	HSD3B2 Ala10Glu	Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ...	Reproductive Hormones	Carrier Status	Strong
rs387907018	TMPRSS6 Matriptase-2 E522K	Rare pathogenic TMPRSS6 missense in the LDLRA2 domain that impairs hemojuveli...	Iron & Mineral Transport	Carrier Status	Strong
rs200788251	ACADVL ACADVL p.Gly289Arg	Pathogenic missense variant in ACADVL encoding VLCAD; heterozygous carriers a...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs33978901	VWF p.Arg924Gln	VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VI...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Moderate
rs201065226	CPT2 p.Arg124Ter (R124X)	Rare stop-gain variant in CPT2 abolishing carnitine palmitoyltransferase II, ...	Metabolic Enzymes & Rare Disorders	Carrier Status	Strong
rs28941784	MMAB Arg186Trp (R186W)	Missense variant eliminating MMAB adenosylcobalamin synthase activity; the mo...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs28940578	MEFV M694I	Exon 10 missense variant in the inflammasome regulator pyrin, converting meth...	TNF, NF-kB & Inflammatory Cytokines	Carrier Status	Strong
rs28942074	ATP7B R778L	Pathogenic missense variant in the hepatic copper transporter ATP7B that abol...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs28940579	MEFV V726A	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Carrier Status	Strong
rs387906675	PROS1 Y234C	Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PRO...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs2531693353	HSD17B4 c.715-1G>A (splice acceptor)	Rare splice acceptor variant disrupting intron 9 of D-bifunctional protein; b...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs28940580	MEFV M680I	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Carrier Status	Strong
rs36211723	MYBPC3 Asp770Asn (c.2308G>A)	Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, ca...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs369296618	MMAB	Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs41276738	VWF p.Arg854Gln (R854Q) type 2N	Missense variant in the VWF D' domain that abolishes high-affinity Factor VII...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs137853000	TMPRSS3 p.Arg216Leu (R216L)	Pathogenic missense variant at the TMPRSS3 autocatalytic cleavage site causin...	Neurology & Cognition	Carrier Status	Strong
rs137853334	HNF4A HNF4A MODY1 Variant	Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal...	Blood Sugar & Diabetes	Carrier Status	Established
rs267606898	MT-ND5	Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of ...	Metabolic Enzymes & Rare Disorders	Carrier Status	Strong
rs371898076	MYH7 Arg663His (R663H)	Pathogenic missense variant in the myosin motor domain causing hypertrophic c...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs3743930	MEFV E148Q	Exon 2 missense variant in the inflammasome regulator pyrin; the most common ...	TNF, NF-kB & Inflammatory Cytokines	Carrier Status	Moderate
rs61748497	VWF C1060R	Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; ...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs200330818	GDF2	Rare missense variant in BMP9/GDF2 that impairs processing of the mature BMP9...	Vascular Inflammation & Remodeling	Carrier Status	Moderate
rs267606993	PYGM PYGM Met1Val (start-loss)	Pathogenic start-codon variant in muscle glycogen phosphorylase; homozygous o...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs3832024	FMO3 FMO3 c.591_592del	A 2-bp frameshift deletion in FMO3 that creates a premature stop codon at pos...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs61750579	VWF V1607D	Pathogenic missense variant in von Willebrand factor A2 domain adjacent to th...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs61750581	VWF S1613P	A2 domain missense variant in von Willebrand factor associated with type 2A v...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Moderate
rs28933978	OTC R141Q (Arg141Gln)	The most common OTC point mutation, abolishing ornithine transcarbamylase enz...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs396514912	OBSCN Protein-truncating variant	Protein-truncating frameshift deletion in obscurin; homozygous or compound he...	Cardiomyopathy & Structural Heart	Carrier Status	Moderate
rs397507172	BTD	Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc...	Vitamins & Nutrient Absorption	Carrier Status	Emerging
rs61750584	VWF I1628T	Missense variant in the VWF A2 domain that destabilizes the protein and incre...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs72551348	UGT1A1 Q331R	Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bil...	Uric Acid & Kidney Function	Carrier Status	Strong
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs397514752	MYBPC3 Gly490Val	Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop s...	Cardiomyopathy & Structural Heart	Carrier Status	Emerging
rs61750591	VWF c.4944del	A frameshift deletion in VWF that truncates von Willebrand factor from positi...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs72553883	TNFRSF13B A181E	Transmembrane domain missense variant in TACI that abolishes NF-κB signaling,...	B-Cell Immunity & Antibody-Mediated Disease	Carrier Status	Strong
rs28936687	ACVRL1	Pathogenic missense variant in ALK1 kinase domain causing hereditary hemorrha...	Vascular Inflammation & Remodeling	Carrier Status	Established
rs367543005	ASL p.Gln354Ter (Q354X)	Nonsense mutation in argininosuccinate lyase introducing a premature stop cod...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs397507174	BTD BTD Tyr190Cys	Pathogenic missense variant in biotinidase that abolishes biotin recycling; h...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs397515563	DNAI1 DNAI1 IVS19+1G>A	Splice donor variant disrupting DNAI1 intron 19, causing in-frame deletion of...	Innate Immunity & Infection Defense	Carrier Status	Strong
rs397515953	MYBPC3	Rare pathogenic/likely pathogenic missense variant in the C5 immunoglobulin-l...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs61750595	VWF R1659X	Nonsense mutation creating a premature stop codon in von Willebrand factor; h...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs370793608	ALDOB ALDOB Y204X	Nonsense variant in the aldolase B gene creating a premature stop codon at po...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs397514538	SLC52A2	Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) cau...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs397516127	MYH7 Arg663Cys (R663C)	Pathogenic missense variant in the beta-myosin heavy chain motor domain causi...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs61750612	VWF R1853X	Nonsense mutation creating a premature stop codon at position 1853 of von Wil...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs760695410	CYP17A1 p.His373Leu	Pathogenic missense variant in CYP17A1 disrupting the heme-binding region of ...	Reproductive Hormones	Carrier Status	Established
rs374304304	ASL ASL Arg94Cys	Pathogenic missense variant in argininosuccinate lyase that reduces urea cycl...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs397516394	TPM1 Met281Val	Ultra-rare TPM1 missense variant of uncertain significance found in hypertrop...	Cardiomyopathy & Structural Heart	Carrier Status	Emerging
rs398123138	BTD	Pathogenic 5-bp frameshift deletion in the biotinidase enzyme gene, eliminati...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs61750630	VWF C2362F	Pathogenic missense variant in von Willebrand factor causing intracellular re...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs80358216	HSD3B2 Trp171X	Pathogenic nonsense variant introducing a premature stop codon at position 17...	Reproductive Hormones	Carrier Status	Established
rs377022708	ACAD9 Arg532Trp (R532W)	Pathogenic missense variant in the ACAD9 complex I assembly factor causing se...	Metabolic Enzymes & Rare Disorders	Carrier Status	Strong
rs61751290	VWF c.7437+1G>T	Splice donor variant in VWF intron 43 that destroys the canonical GT dinucleo...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Emerging
rs61752717	MEFV M694V	The most common and clinically severe MEFV mutation, converting methionine to...	TNF, NF-kB & Inflammatory Cytokines	Carrier Status	Established
rs28937900	FKRP L276I	The most common pathogenic mutation in FKRP causing limb-girdle muscular dyst...	Fitness & Body	Carrier Status	Established
rs387906249	ACADVL c.343del (p.Glu115Lysfs*2)	Pathogenic ACADVL frameshift deletion causing premature protein truncation; h...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs397516407	MYL2 Glu163Ala	Pathogenic missense variant in the regulatory myosin light chain gene; hetero...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs397516919	DSP DSP Trp550Ter	Nonsense variant in desmoplakin that truncates the protein at codon 550, caus...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs61754002	VWF Y357X	Nonsense mutation creating a premature stop codon in von Willebrand factor; n...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs397516923	DSP DSP Q72Ter	Rare truncating variant in desmoplakin that creates a premature stop codon at...	Cardiomyopathy & Structural Heart	Carrier Status	Moderate
rs61754010	VWF N528S	Pathogenic missense variant in the VWF propeptide D2 domain that introduces a...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs72552272	SLC7A7 L334R	Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs397516929	DSP Ser987Pro	Rare missense variant in desmoplakin that likely disrupts desmosomal integrit...	Cardiomyopathy & Structural Heart	Carrier Status	Emerging
rs61754011	VWF Gly550Arg	Pathogenic missense variant in the VWF propeptide D2 domain that prevents hig...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs72552297	OTC Asn10fs (c.29_32del)	Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylas...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs193922485	HNF1B	Rare HNF1B splice-region intronic variant of uncertain significance, found ne...	Blood Sugar & Diabetes	Carrier Status	Emerging
rs397516933	DSP DSP Gln1277Ter	Nonsense variant in desmoplakin that truncates the protein at codon 1277, cau...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs74315294	CPT2 p.Ser113Leu (S113L)	Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs181949335	TMPRSS3 p.Ala306Thr (A306T)	Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain;...	Neurology & Cognition	Carrier Status	Strong
rs397516943	DSP	Pathogenic DSP nonsense variant creating a premature stop codon at position 1...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs397516946	DSP DSP Q1810X	Pathogenic stop-gain in desmoplakin's tail domain; one copy truncates the pro...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs193922916	APP A673V (Aβ A2V)	Recessive pathogenic APP missense variant causing early-onset Alzheimer's dis...	Neurology & Cognition	Carrier Status	Strong
rs587782951	JPH2 Thr161Lys	Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs71180793	OBSCN OBSCN c.23838del	Frameshift deletion in obscurin, a giant sarcomeric scaffold protein; heteroz...	Cardiomyopathy & Structural Heart	Carrier Status	Emerging
rs73015965	PLG Lys38Glu (K38E)	Missense variant in plasminogen that reduces fibrinolytic activity and impair...	Innate Immunity & Infection Defense	Carrier Status	Strong
rs587776949	NDUFS4	Frameshift deletion in NDUFS4 abolishing mitochondrial complex I function; ho...	Longevity & Aging	Carrier Status	Established
rs77931234	ACADM c.985A>G (p.Lys329Glu)	Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predispos...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs397514580	GCK GCK MODY2 E339K	Pathogenic glucokinase missense variant causing maturity-onset diabetes of th...	Blood Sugar & Diabetes	Carrier Status	Strong
rs35887622	GJB2 M34T	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Carrier Status	Established
rs45598239	TMPRSS3	Near-gene variant tagging the TMPRSS3 hearing loss locus on chromosome 21, as...	Neurology & Cognition	Carrier Status	Moderate
rs606231425	MMACHC	Pathogenic missense variant in the cobalamin-processing enzyme; homozygosity ...	Methylation & Detox	Carrier Status	Strong
rs72474224	GJB2 V37I	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Carrier Status	Established
rs727503493	TMPRSS3 c.208delC (p.His70Thrfs*19)	Frameshift deletion in TMPRSS3 causing premature stop at codon 88; a severe p...	Neurology & Cognition	Carrier Status	Strong
rs80338939	GJB2 35delG	The most common cause of autosomal recessive nonsyndromic hearing loss in Eur...	Neurology & Cognition	Carrier Status	Established
rs80338942	GJB2 167delT	The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% ...	Neurology & Cognition	Carrier Status	Established
rs80338943	GJB2 c.235delC	Frameshift deletion eliminating connexin 26 function; the most common GJB2 de...	Neurology & Cognition	Carrier Status	Established