Tag
Reproductive Health
124 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10093345 | EIF4EBP1 EIF4EBP1 rs10093345 | Intergenic GWAS locus near EIF4EBP1 (encoding the mTOR translation repressor ... | Endometriosis & Uterine Health | Moderate | |
| rs10183486 | TLK1 | Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chr... | Gamete Quality & DNA Repair | Strong | |
| rs1046089 | PRRC2A Arg1740His | Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat... | Fertility & Ovarian Function | Strong | |
| rs104894085 | STAR Q258X (c.772C>T) | Nonsense mutation in STAR that abolishes steroidogenic acute regulatory prote... | Reproductive Hormones | Established | |
| rs10167914 | IL1A IL1A Endometriosis Susceptibility Variant | A regulatory tag SNP in the IL1A/IL1B locus on chromosome 2q13; the G allele ... | Endometriosis & Uterine Health | Strong | |
| rs104894135 | CYP17A1 Ser106Pro | Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla... | Reproductive Hormones | Established | |
| rs10804920 | TP63 TP63 oocyte apoptosis checkpoint variant | Intronic variant in TP63 (p63), the master DNA-damage checkpoint gene in prim... | Gamete Quality & DNA Repair | Strong | |
| rs104894136 | CYP17A1 Arg239* | Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ... | Reproductive Hormones | Established | |
| rs1054564 | GDF15 GDF15 3'UTR rs1054564 | 3'UTR variant that controls GDF15 expression via microRNA regulation — C alle... | Endometriosis & Uterine Health | Moderate | |
| rs10773771 | PIWIL1 PIWIL1 3'UTR C>T | A 3' UTR variant in PIWIL1 that alters miRNA binding to the transcript and mo... | Fertility & Ovarian Function | Emerging | |
| rs116098458 | KIF2B | Rare intronic variant in a lncRNA antisense to KIF2B (chromosome 17q22), iden... | Gamete Quality & DNA Repair | Moderate | |
| rs104894137 | CYP17A1 Pro342Thr | Missense variant in CYP17A1 reducing both 17α-hydroxylase and 17,20-lyase act... | Reproductive Hormones | Strong | |
| rs10835638 | FSHB c.-211G>T | Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering se... | Fertility & Ovarian Function | Strong | |
| rs10859871 | VEZT | Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increa... | Endometriosis & Uterine Health | Strong | |
| rs118204017 | ACADVL | ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ... | Liver Fat | Strong | |
| rs12651246 | HELQ HELQ Helicase Meiotic Repair Variant | An intronic variant in HELQ (helicase, POLQ-like) on chromosome 4q21.23; the ... | Gamete Quality & DNA Repair | Strong | |
| rs104894138 | CYP17A1 Arg96Trp (R96W) | Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ... | Reproductive Hormones | Established | |
| rs11674184 | GREB1 GREB1 Estrogen-Responsive Endometriosis Variant | Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is ass... | Endometriosis & Uterine Health | Strong | |
| rs1635501 | EXO1 EXO1 rs1635501 | Intronic variant in EXO1 (exonuclease 1), a DNA mismatch repair and meiotic r... | Gamete Quality & DNA Repair | Strong | |
| rs104894141 | CYP17A1 W17X | Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α... | Reproductive Hormones | Established | |
| rs11031006 | FSHB | Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, d... | Fertility & Ovarian Function | Strong | |
| rs1250248 | FN1 | Intronic variant in the fibronectin 1 gene associated with increased suscepti... | Endometriosis & Uterine Health | Strong | |
| rs104894142 | CYP17A1 R362C (Arg362Cys) | Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly... | Reproductive Hormones | Established | |
| rs1172816 | BRSK1 BRSK1 Ovarian Reserve Variant | Intronic variant in BRSK1 (BR serine/threonine kinase 1) on chromosome 19q13.... | Fertility & Ovarian Function | Strong | |
| rs12688128 | IL1RAPL2 IL1RAPL2 Intron Variant | X-linked intronic variant in IL1RAPL2, a synaptic adhesion gene expressed exc... | Endometriosis & Uterine Health | Emerging | |
| rs104894143 | CYP17A1 W406R (Trp406Arg) | Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla... | Reproductive Hormones | Established | |
| rs104894396 | GJB2 W24X | Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea... | Neurology & Cognition | Established | |
| rs1137101 | LEPR Q223R (Gln223Arg) | Common leptin receptor variant in the leptin-binding domain affecting satiety... | Hormones & Sleep | Moderate | |
| rs12470652 | LHCGR Asn291Ser (N291S) | Missense variant in the LH/hCG receptor producing a gain-of-function increase... | Fertility & Ovarian Function | Moderate | |
| rs12700667 | 7p15.2 (near HOXA10/HOXA11) | Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i... | Endometriosis & Uterine Health | Established | |
| rs2032582 | ABCB1 G2677T/A (Ser893Ala/Thr) | Triallelic missense variant in the P-glycoprotein efflux pump that reduces th... | Gamete Quality & DNA Repair | Moderate | |
| rs1159327 | ESR1 ESR1 intron variant | Intronic variant in estrogen receptor alpha associated with bone mineral dens... | Reproductive Hormones | Moderate | |
| rs12478601 | THADA THADA PCOS/Insulin Resistance | Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; th... | Fertility & Ovarian Function | Strong | |
| rs12870438 | EPSTI1 | Intronic variant in the immune-response gene EPSTI1, associated in recessive ... | Endometriosis & Uterine Health | Moderate | |
| rs2147349 | XPO4 | Intronic variant in XPO4 (chromosome 13q12.11) at a locus associated with age... | Gamete Quality & DNA Repair | Moderate | |
| rs121908866 | TSHR W546X | Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH... | Reproductive Hormones | Strong | |
| rs13154066 | NPR3 | Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene ... | Endometriosis & Uterine Health | Strong | |
| rs13405728 | LHCGR | Intronic variant in the LH/choriogonadotropin receptor gene associated with P... | Fertility & Ovarian Function | Strong | |
| rs2277339 | PRIM1 PRIM1 Asp5Ala missense variant | Missense variant in PRIM1 (DNA primase small subunit) that changes aspartate ... | Gamete Quality & DNA Repair | Strong | |
| rs1238574 | SULT1E1 SULT1E1 intronic variant | Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with alter... | Reproductive Hormones | Emerging | |
| rs13164856 | IRF1 | PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with ele... | Endometriosis & Uterine Health | Strong | |
| rs16991615 | MCM8 E341K | Missense variant in the MCM8 DNA repair helicase associated with ovarian rese... | Fertility & Ovarian Function | Strong | |
| rs1800386 | VWF Tyr1584Cys | Low-penetrance variant in von Willebrand factor that causes enhanced protein ... | Von Willebrand & Anticoagulant Proteins | Strong | |
| rs13394619 | GREB1 | Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc... | Endometriosis & Uterine Health | Established | |
| rs137852689 | STAR R217T (Arg217Thr) | Pathogenic STAR variant that abolishes steroidogenic acute regulatory protein... | Reproductive Hormones | Established | |
| rs1784692 | ZBTB16 ZBTB16/PLZF Ovarian Volume | An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T a... | Fertility & Ovarian Function | Moderate | |
| rs137852690 | STAR A218V | STAR missense variant abolishing steroidogenic activity; homozygous carriers ... | Reproductive Hormones | Established | |
| rs2153157 | SYCP2L SYCP2L splice-efficiency variant | Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more... | Fertility & Ovarian Function | Strong | |
| rs2305957 | HSPA4L | Intronic variant in HSPA4L within a chromosome 4 haplotype spanning PLK4; the... | Gamete Quality & DNA Repair | Moderate | |
| rs137853096 | HSD17B4 Gly16Ser | Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting... | Metabolic Enzymes & Rare Disorders | Established | |
| rs1529868 | GREB1 GREB1 rs1529868 | Intronic GREB1 variant at 2p25.1 (c.772+34) in high LD (r²=0.853 CEU) with th... | Endometriosis & Uterine Health | Moderate | |
| rs2178575 | ERBB4 ERBB4/HER4 PCOS Folliculogenesis | An intronic variant in ERBB4 on chromosome 2q34; the A allele tags reduced ER... | Fertility & Ovarian Function | Strong | |
| rs2268797 | SRD5A2 SRD5A2 intronic variant | Intronic variant in SRD5A2 tagging haplotype backgrounds that differ in 5-alp... | Reproductive Hormones | Emerging | |
| rs137853097 | HSD17B4 N457Y | Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein;... | Metabolic Enzymes & Rare Disorders | Established | |
| rs2268361 | FSHR FSHR Intronic Variant (c.669-5590) | Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH... | Fertility & Ovarian Function | Moderate | |
| rs236114 | MCM8 | Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosom... | Gamete Quality & DNA Repair | Strong | |
| rs2414095 | CYP19A1 | Intronic variant in the aromatase gene associated with lower circulating estr... | Reproductive Hormones | Strong | |
| rs1903068 | KDR KDR/VEGFR2 Endometriosis Angiogenesis Variant | Intergenic variant ~17 kb upstream of KDR (encoding VEGFR2, the primary VEGF ... | Endometriosis & Uterine Health | Strong | |
| rs2268363 | FSHR FSHR ART Response Variant | Intronic variant in the FSH receptor gene; identified in a genome-wide associ... | Fertility & Ovarian Function | Emerging | |
| rs2414096 | CYP19A1 CYP19A1 intron 4 polymorphism | Intronic CYP19A1 polymorphism associated with variation in aromatase expressi... | Reproductive Hormones | Moderate | |
| rs244715 | ZNF346 | Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP... | Gamete Quality & DNA Repair | Strong | |
| rs1971256 | CCDC170 CCDC170/ESR1 Endometriosis Estrogen Signaling Variant | Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regula... | Endometriosis & Uterine Health | Strong | |
| rs2271194 | ERBB3 ERBB3/RAB5B PCOS Metabolic | A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a rep... | Fertility & Ovarian Function | Strong | |
| rs258750 | NR3C1 NR3C1 Intronic Variant (c.2181+244A>G) | Intronic NR3C1 variant tagging glucocorticoid receptor gene haplotype blocks ... | Reproductive Hormones | Moderate | |
| rs2046210 | ESR1 ESR1 rs2046210 | Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1;... | Endometriosis & Uterine Health | Strong | |
| rs2293275 | LHCGR Asn312Ser (N312S) | Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov... | Fertility & Ovarian Function | Strong | |
| rs2747648 | ESR1 ESR1 3′UTR miR-453 site | 3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity... | Reproductive Hormones | Moderate | |
| rs3734637 | HEY2 | A 3'UTR regulatory variant in HEY2, a Notch signaling transcription factor ex... | Gamete Quality & DNA Repair | Emerging | |
| rs2206949 | ESR1 ESR1 Intronic Endometriosis Variant | Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus inde... | Endometriosis & Uterine Health | Moderate | |
| rs2303369 | FNDC4 | Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom... | Fertility & Ovarian Function | Strong | |
| rs2883929 | NR3C2 NR3C2 I3 intron variant | Intronic variant in the mineralocorticoid receptor gene associated with alter... | Reproductive Hormones | Moderate | |
| rs2456181 | ZNF346 | Intronic variant near ZNF346 and FGFR4 on chromosome 5q35.2, associated with ... | Endometriosis & Uterine Health | Strong | |
| rs2479106 | DENND1A | Intronic variant in the androgen-regulating DENND1A gene associated with poly... | Fertility & Ovarian Function | Strong | |
| rs28934880 | HSD3B2 Ala10Glu | Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ... | Reproductive Hormones | Strong | |
| rs28416520 | PIWIL1 PIWIL1 piRNA Pathway Variant | A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ... | Fertility & Ovarian Function | Moderate | |
| rs2856836 | IL1A | 3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis su... | Endometriosis & Uterine Health | Moderate | |
| rs3889728 | AGT AGT Intronic Variant | Intronic variant in the angiotensinogen (AGT) gene; the T allele has been inc... | Reproductive Hormones | Emerging | |
| rs853854 | MAPRE1 MAPRE1/EB1 Spindle Stability | An intronic PCOS susceptibility variant in MAPRE1 (chromosome 20q11.21) ident... | Gamete Quality & DNA Repair | Moderate | |
| rs28941784 | MMAB Arg186Trp (R186W) | Missense variant eliminating MMAB adenosylcobalamin synthase activity; the mo... | Vitamins & Nutrient Absorption | Established | |
| rs3129878 | HLA-DRA HLA-DRA Variant | Intronic variant in the HLA class II region associated with nonobstructive az... | Endometriosis & Uterine Health | Strong | |
| rs314276 | LIN28B | Intronic variant in LIN28B associated with puberty timing — the C allele may ... | Fertility & Ovarian Function | Established | |
| rs4704397 | PDE8B PDE8B TSH-associated variant | Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with ser... | Reproductive Hormones | Strong | |
| rs3750243 | EIF4EBP1 EIF4EBP1 mTOR Pathway Variant | Regulatory variant 2 kb upstream of EIF4EBP1 (encoding 4E-BP1, a direct mTOR ... | Fertility & Ovarian Function | Strong | |
| rs3783550 | IL1A | Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio... | Endometriosis & Uterine Health | Moderate | |
| rs3820282 | WNT4 | Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinit... | Endometriosis & Uterine Health | Strong | |
| rs5934505 | FAM9B | Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FA... | Reproductive Hormones | Strong | |
| rs13429458 | THADA THADA PCOS/T2D Variant | Intronic variant in THADA, a gene encoding a calcium channel-regulating prote... | Blood Sugar & Diabetes | Moderate | |
| rs4762326 | VEZT VEZT Endometriosis Cell Adhesion Variant | Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) o... | Endometriosis & Uterine Health | Strong | |
| rs4944653 | PRSS23 PRSS23 Ovarian Serine Protease | An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr... | Fertility & Ovarian Function | Moderate | |
| rs6162 | CYP17A1 His46= | Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered ... | Reproductive Hormones | Moderate | |
| rs4806660 | TMEM150B | Intronic variant in TMEM150B (19q13.42) associated with age at natural menopa... | Endometriosis & Uterine Health | Strong | |
| rs6165 | FSHR Ala307Thr (T307A) | Missense variant in the extracellular domain of the FSH receptor that removes... | Fertility & Ovarian Function | Strong | |
| rs4848306 | IL1B | IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the... | Endometriosis & Uterine Health | Emerging | |
| rs700519 | CYP19A1 Arg264Cys | Coding variant in aromatase that substitutes cysteine for arginine at positio... | Reproductive Hormones | Moderate | |
| rs7759938 | LIN28B | Regulatory variant near LIN28B associated with puberty timing — the T allele ... | Fertility & Ovarian Function | Established | |
| rs7167936 | CYP19A1 CYP19A1 intronic variant | Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG b... | Reproductive Hormones | Emerging | |
| rs7852296 | DENND1A DENND1A PCOS Susceptibility Variant | An intronic variant in the DENND1A locus on chromosome 9q33.3, a robustly rep... | Fertility & Ovarian Function | Moderate | |
| rs804279 | GATA4 GATA4/NEIL2 PCOS Susceptibility | Intergenic variant at the GATA4/NEIL2 locus on chromosome 8p23.1 associated w... | Fertility & Ovarian Function | Moderate | |
| rs547025 | SIRT3 | Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associate... | Endometriosis & Uterine Health | Moderate | |
| rs9348724 | SYCP2L SYCP2L synaptonemal complex variant | Regulatory variant 2 kb upstream of SYCP2L; each copy of the minor C allele a... | Fertility & Ovarian Function | Strong | |
| rs6542095 | IL1A IL1A rs6542095 | Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m... | Endometriosis & Uterine Health | Moderate | |
| rs7594951 | SRD5A2 SRD5A2 intron 4 regulatory variant | Deep intronic variant in the testosterone-to-DHT converting enzyme; the minor... | Reproductive Hormones | Emerging | |
| rs9393800 | SYCP2L SYCP2L GWAS hit for age at natural menopause | Intronic variant in SYCP2L on chromosome 6p24.2; the G allele associates with... | Fertility & Ovarian Function | Strong | |
| rs760695410 | CYP17A1 p.His373Leu | Pathogenic missense variant in CYP17A1 disrupting the heme-binding region of ... | Reproductive Hormones | Established | |
| rs6757908 | EIF2AK3-AS1 | Rare intronic variant in EIF2AK3-AS1, an antisense long non-coding RNA that r... | Endometriosis & Uterine Health | Emerging | |
| rs80358216 | HSD3B2 Trp171X | Pathogenic nonsense variant introducing a premature stop codon at position 17... | Reproductive Hormones | Established | |
| rs1799817 | INSR His1085His | Synonymous variant in the tyrosine kinase domain of the insulin receptor; the... | Blood Sugar & Diabetes | Moderate | |
| rs71575922 | SYNE1 SYNE1 Endometriosis Pain Subphenotype Variant | An intronic variant in SYNE1 (Nesprin-1) at the 6q25.1 locus, first identifie... | Endometriosis & Uterine Health | Strong | |
| rs858518 | SHBG SHBG intronic regulatory variant | Intronic variant within the SHBG gene that participates in a haplotype (with ... | Reproductive Hormones | Moderate | |
| rs72709458 | TERT | Intronic TERT variant that increases uterine fibroid (leiomyoma) risk through... | Endometriosis & Uterine Health | Strong | |
| rs9340799 | ESR1 XbaI polymorphism | Intronic variant in the estrogen receptor alpha gene (intron 1) associated wi... | Reproductive Hormones | Moderate | |
| rs73625113 | ESR1 ESR1 rs73625113 | An intronic regulatory variant in ESR1 at the 6q25.1 locus identified as a hi... | Endometriosis & Uterine Health | Strong | |
| rs7521902 | WNT4 | Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS ... | Endometriosis & Uterine Health | Strong | |
| rs7907606 | STN1 | Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kin... | Endometriosis & Uterine Health | Moderate | |
| rs7986407 | FOXO1 | Intronic variant in FOXO1, a pro-apoptotic transcription factor whose suppres... | Endometriosis & Uterine Health | Strong | |
| rs932764 | PLCE1 | Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevate... | Endometriosis & Uterine Health | Strong | |
| rs9383935 | CCDC170 | 3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel... | Endometriosis & Uterine Health | Moderate | |
| rs587776949 | NDUFS4 | Frameshift deletion in NDUFS4 abolishing mitochondrial complex I function; ho... | Longevity & Aging | Established | |
| rs35887622 | GJB2 M34T | Connexin 26 missense variant causing partial loss of cochlear gap junction fu... | Neurology & Cognition | Established | |
| rs6166 | FSHR Asn680Ser (N680S) | Affects FSH receptor sensitivity, determining ovarian response to FSH stimula... | Hormones & Sleep | Strong | |
| rs743572 | CYP17A1 -34 T>C | Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn... | Hormones & Sleep | Strong | |
| rs80338939 | GJB2 35delG | The most common cause of autosomal recessive nonsyndromic hearing loss in Eur... | Neurology & Cognition | Established | |
| rs80338942 | GJB2 167delT | The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% ... | Neurology & Cognition | Established | |
| rs80338943 | GJB2 c.235delC | Frameshift deletion eliminating connexin 26 function; the most common GJB2 de... | Neurology & Cognition | Established |