Tag
Brain Health
113 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs1003194 | CALCA/CALCB | Intergenic regulatory variant ~26 kb downstream of CALCB (calcitonin gene-rel... | Neurology & Cognition | Strong | |
| rs1006737 | CACNA1C | L-type calcium channel gene variant affecting mood regulation, emotional proc... | Mood & Behavior | Strong | |
| rs10150332 | NRXN3 | Obesity and waist circumference GWAS hit in NRXN3 — links reward-circuit syna... | Appetite & Obesity | Strong | |
| rs10038916 | GRIA1 | Intronic variant in the AMPA glutamate receptor gene GRIA1 associated with re... | Neurology & Cognition | Strong | |
| rs1049353 | CNR1 3'UTR (G1359A) | Synonymous exon 4 variant in the cannabinoid receptor 1 gene; near an exon sp... | Mood & Behavior | Moderate | |
| rs10514299 | TMEM161B-MEF2C TMEM161B-MEF2C intergenic variant | Intronic variant near the MEF2C transcription factor locus associated with in... | Mood & Behavior | Strong | |
| rs10166942 | TRPM8 | Upstream regulatory variant of the cold-sensing TRPM8 channel that modulates ... | Neurology & Cognition | Strong | |
| rs10767664 | BDNF | Obesity GWAS locus in a conserved BDNF enhancer - reduces hypothalamic BDNF e... | Appetite & Obesity | Strong | |
| rs1019385 | GRIN2B | Promoter variant in the GRIN2B Sp1 binding site that reduces NR2B subunit exp... | Neurology & Cognition | Moderate | |
| rs10786831 | SORCS3 SORCS3 Depression Variant | Intronic variant in the neurotrophin sorting receptor SORCS3, the top GWAS hi... | Mood & Behavior | Strong | |
| rs10405121 | CACNA1A | Common intronic variant in CACNA1A — the P/Q-type calcium channel gene mutate... | Neurology & Cognition | Strong | |
| rs10947690 | MDGA1 Leu61Pro | Missense variant in the inhibitory synapse regulator MDGA1 that impairs neuro... | Hormones & Sleep | Strong | |
| rs11599236 | SORCS3 SORCS3 Neurotrophin Sorting | Intronic variant in the BDNF-receptor trafficking gene SORCS3, associated wit... | Mood & Behavior | Strong | |
| rs10456100 | KCNK5 | Intronic variant near KCNK5 that reduces TASK2 potassium channel expression a... | Neurology & Cognition | Strong | |
| rs12606138 | NEDD4L | Intronic variant in NEDD4L associated with reading ability and dyslexia susce... | Blood Pressure & Hypertension | Moderate | |
| rs12688128 | IL1RAPL2 IL1RAPL2 Intron Variant | X-linked intronic variant in IL1RAPL2, a synaptic adhesion gene expressed exc... | Endometriosis & Uterine Health | Emerging | |
| rs10514168 | TSHZ1 | Intergenic variant downstream of TSHZ1, a transcription factor essential for ... | Neurology & Cognition | Strong | |
| rs1144566 | RGS16 RGS16 H137R | Missense variant in RGS16 that substitutes histidine for arginine at position... | Hormones & Sleep | Moderate | |
| rs1064395 | NCAN | 3' UTR variant in the neurocan gene associated with bipolar disorder and schi... | Neurology & Cognition | Strong | |
| rs11172113 | LRP1 | Intronic enhancer variant in LRP1 that regulates receptor expression in brain... | Fat Storage & Energy | Moderate | |
| rs1387923 | NTRK2 NTRK2/TrkB 3'UTR variant | 3' UTR variant in the TrkB receptor gene affecting NTRK2 expression; associat... | Mood & Behavior | Moderate | |
| rs1535 | FADS2 | Intronic FADS2 variant with stronger independent associations than rs174575 f... | Triglycerides & Fatty Acids | Strong | |
| rs11545787 | RASD1 RASD1 photic entrainment variant | 3' UTR variant in RASD1 (Dexras1), a GTPase that gates light signals to the c... | Hormones & Sleep | Strong | |
| rs10895816 | GRIA4 | Intronic variant in the AMPA glutamate receptor gene GRIA4 associated with re... | Neurology & Cognition | Strong | |
| rs113809142 | ABCA7 ABCA7 splice donor variant (c.4416+2T>G) | Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing hap... | Neurology & Cognition | Strong | |
| rs12736689 | RGS16 | Intronic/regulatory variant near RGS16 that is the strongest single-locus mor... | Hormones & Sleep | Strong | |
| rs11713169 | NLGN1 | Intronic variant in neuroligin 1, a postsynaptic cell adhesion molecule essen... | Neurology & Cognition | Strong | |
| rs140926439 | FN1 | Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk ... | Longevity & Aging | Emerging | |
| rs1800497 | DRD2/ANKK1 TaqIA (Glu713Lys) | Reduces dopamine D2 receptor density in the striatum, affecting reward proces... | Mood & Behavior | Strong | |
| rs11931074 | SNCA | SNCA 3′-region variant in the extended 3′ UTR that affects alpha-synuclein mR... | Neurology & Cognition | Strong | |
| rs1800955 | DRD4 -521C>T | Promoter variant that modulates dopamine D4 receptor expression in the prefro... | Mood & Behavior | Moderate | |
| rs2023239 | CNR1 | Intronic variant near the CNR1 exon 3 alternative promoter that modulates CB1... | Mood & Behavior | Moderate | |
| rs12459419 | CD33 CD33 exon 2 splicing variant | Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — ... | Neurology & Cognition | Strong | |
| rs2815752 | NEGR1 | Top obesity GWAS variant near NEGR1 — affects hypothalamic appetite regulatio... | Appetite & Obesity | Strong | |
| rs12598836 | HMOX2 | Intronic variant near heme oxygenase 2 (HMOX2) associated with migraine-with-... | Neurology & Cognition | Moderate | |
| rs2271933 | HCRTR1 Ile408Val | Missense variant in the orexin/hypocretin receptor 1 that alters G-protein si... | Mood & Behavior | Moderate | |
| rs12693542 | SLC40A1 | Regulatory variant upstream of ferroportin (the sole cellular iron exporter) ... | Neurology & Cognition | Strong | |
| rs174575 | FADS2 | Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing... | Triglycerides & Fatty Acids | Strong | |
| rs199347 | GPNMB | Intronic GPNMB variant that acts as a brain eQTL; the A allele increases GPNM... | Longevity & Aging | Strong | |
| rs2371365 | PCLO PCLO Presynaptic Scaffold | Intronic variant in the presynaptic scaffold gene PCLO linked to altered mono... | Mood & Behavior | Moderate | |
| rs12752133 | GBA | Intronic GBA variant associated with REM sleep behavior disorder via lysosoma... | Neurology & Cognition | Strong | |
| rs174616 | FADS2 FADS2 Haplotype Block Variant | Intronic FADS2 variant tagging the FADS1/FADS2 haplotype block; A allele carr... | Triglycerides & Fatty Acids | Strong | |
| rs17606561 | ELOVL2 | 3'-UTR variant in ELOVL2 associated with altered EPA-to-DHA conversion; A all... | Triglycerides & Fatty Acids | Moderate | |
| rs2568958 | NEGR1 NEGR1 depression/BMI variant | Intergenic tag SNP near NEGR1 associated with elevated BMI and major depressi... | Mood & Behavior | Strong | |
| rs145999145 | PLD3 V232M | Rare missense variant in the lysosomal exonuclease PLD3 that impairs endolyso... | Neurology & Cognition | Moderate | |
| rs1532278 | CLU CLU Alzheimer's risk variant | Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls... | Neurology & Cognition | Strong | |
| rs6841581 | EDNRA | Regulatory variant upstream of the endothelin receptor type A gene that reduc... | Blood Pressure & Hypertension | Strong | |
| rs35936514 | LHPP LHPP depression risk variant | Intronic/3'UTR variant in LHPP, a histidine phosphatase essential for stress ... | Mood & Behavior | Strong | |
| rs17070145 | WWC1 Intronic C>T | Influences episodic memory performance and hippocampal function through the K... | Neurology & Cognition | Moderate | |
| rs2050122 | HTR6 | Regulatory variant near the HTR6 serotonin 6 receptor gene associated with ch... | Hormones & Sleep | Moderate | |
| rs1718119 | P2RX7 Ala348Thr | Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore f... | Neurology & Cognition | Moderate | |
| rs17518584 | CADM2 | Intronic CADM2 variant genome-wide significant for information processing spe... | Neurology & Cognition | Moderate | |
| rs17649553 | MAPT H1/H2 Haplotype Tag | Haplotype-tagging variant distinguishing MAPT H1 and H2 clades, affecting ris... | Neurology & Cognition | Strong | |
| rs4702 | FURIN proBDNF Processing Variant | A 3'UTR regulatory variant where the G allele creates a miR-338-3p binding si... | Mood & Behavior | Moderate | |
| rs17651213 | MAPT Exon 3 Splice Regulator | Intronic MAPT variant that directly regulates tau exon 3 splicing via differe... | Neurology & Cognition | Strong | |
| rs1784931 | SORL1 SORL1 intron 39 variant | Intronic variant in the sortilin-related receptor that tags a 3′ haplotype bl... | Neurology & Cognition | Moderate | |
| rs17857135 | RNF213 Met270Thr | Missense variant (Met270Thr) in RNF213, the major moyamoya disease susceptibi... | Neurology & Cognition | Strong | |
| rs2275780 | APH1A APH1A Promoter -21C/A | 5' UTR variant in the APH1A gamma-secretase subunit gene, located 21 bp upstr... | Hormones & Sleep | Emerging | |
| rs1800547 | MAPT H1/H2 Haplotype Splice Regulator | Intronic MAPT variant that regulates tau exon 3 splicing via hnRNP F/Q bindin... | Neurology & Cognition | Strong | |
| rs4900442 | CYP46A1 | Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele assoc... | Cholesterol & Lipoproteins | Moderate | |
| rs1906252 | POU3F2 | Regulatory variant at chromosome 6q16.1 near POU3F2 (BRN2), a master transcri... | Neurology & Cognition | Strong | |
| rs6454674 | CNR1 Near gene (SNP3) | Intronic variant in the cannabinoid receptor 1 gene that modulates substance ... | Mood & Behavior | Moderate | |
| rs2229431 | INSR | Synonymous exon 13 variant in the insulin receptor gene; the A allele has bee... | Blood Sugar & Diabetes | Emerging | |
| rs72704544 | GPM6A GPM6A Neuronal Membrane Glycoprotein | Intronic variant in the neuronal membrane glycoprotein M6a gene — a stress-do... | Mood & Behavior | Moderate | |
| rs2078371 | TSPAN2 | Regulatory variant in the TSPAN2/NGF locus on chromosome 1p13; the C allele i... | Neurology & Cognition | Strong | |
| rs73034295 | IGSF9B IGSF9B Inhibitory Synapse Adhesion | Intronic variant in the gene encoding the inhibitory synaptic adhesion protei... | Mood & Behavior | Emerging | |
| rs2153535 | BLOC1S5 | Regulatory variant near MUTED/BLOC1S5, a gene whose mouse homolog controls ot... | Neurology & Cognition | Strong | |
| rs806368 | CNR1 | 3'UTR variant in the cannabinoid receptor 1 gene that regulates CB1 expressio... | Mood & Behavior | Moderate | |
| rs2230912 | P2RX7 Gln460Arg | Missense variant in the C-terminal domain of the P2X7 receptor that disrupts ... | Neurology & Cognition | Moderate | |
| rs2274319 | MEF2D | Intronic variant in MEF2D encoding a key neuronal transcription factor that r... | Neurology & Cognition | Strong | |
| rs956572 | BCL2 | Intronic variant in the anti-apoptotic gene BCL2 that affects BCL2 expression... | Mood & Behavior | Moderate | |
| rs34903499 | VIP | Synonymous coding variant in the VIP gene (Asn133Asn); the T allele may alter... | Hormones & Sleep | Emerging | |
| rs2306402 | CTNNA3 | Intronic variant in the alpha-T-catenin gene associated with modestly increas... | Neurology & Cognition | Emerging | |
| rs3798713 | ELOVL2 | Intronic variant in ELOVL2 associated with altered plasma phospholipid PUFA l... | Triglycerides & Fatty Acids | Moderate | |
| rs242557 | MAPT H1c Sub-haplotype Tag | Intronic MAPT variant tagging the H1c sub-haplotype within the H1 clade, inde... | Neurology & Cognition | Strong | |
| rs35833281 | HCRTR2 | Intronic variant in the orexin/hypocretin receptor 2 gene that tags the HCRTR... | Hormones & Sleep | Strong | |
| rs2471738 | MAPT H1c Sub-haplotype Tag (rs2471738) | Intronic MAPT variant whose T allele co-defines the H1c sub-haplotype, indepe... | Neurology & Cognition | Strong | |
| rs3754048 | APH1A -980C/G | Regulatory variant 2 kb upstream of APH1A where the C allele (paper's G, codi... | Hormones & Sleep | Moderate | |
| rs2583988 | SNCA | SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA... | Neurology & Cognition | Emerging | |
| rs2653349 | HCRTR2 Ile308Val | Missense variant at position 308 of the orexin receptor 2 protein; the minor ... | Neurology & Cognition | Strong | |
| rs4307059 | CDH9/CDH10 | Intergenic variant at 5p14.1 between neuronal cell-adhesion genes CDH9 and CD... | Hormones & Sleep | Strong | |
| rs2736990 | SNCA | Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and... | Neurology & Cognition | Strong | |
| rs306960 | PTK2 | Intronic variant in PTK2 (focal adhesion kinase) linked to restless legs synd... | Neurology & Cognition | Strong | |
| rs516134 | RGS16 RGS16 chronotype variant | Regulatory variant ~20 kb downstream of RGS16 that influences circadian chron... | Hormones & Sleep | Strong | |
| rs356182 | SNCA | Parkinson's disease GWAS risk variant affecting alpha-synuclein expression an... | Neurology & Cognition | Strong | |
| rs356219 | SNCA | SNCA 3′-region regulatory variant that upregulates alpha-synuclein expression... | Neurology & Cognition | Strong | |
| rs3756059 | SNCA | Intronic SNCA variant at the 5′ locus associated with REM sleep behavior diso... | Neurology & Cognition | Strong | |
| rs3785883 | MAPT H1h Sub-haplotype Tag | Intronic MAPT variant whose A allele defines the H1h sub-haplotype — a config... | Neurology & Cognition | Moderate | |
| rs3865444 | CD33 CD33 microglial Alzheimer's variant | Promoter-region variant that modulates CD33 expression on microglia — the pro... | Neurology & Cognition | Strong | |
| rs4532 | DRD1 | Regulatory 5'UTR variant in the dopamine D1 receptor gene influencing recepto... | Neurology & Cognition | Moderate | |
| rs4851266 | AFF3 | Intronic variant in the super elongation complex gene AFF3; the T allele incr... | Neurology & Cognition | Strong | |
| rs56051278 | GPD2 | Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), ... | Neurology & Cognition | Strong | |
| rs61734410 | CACNA1H Pro640Leu | Missense variant in CACNA1H encoding the CaV3.2 T-type calcium channel; the L... | Neurology & Cognition | Moderate | |
| rs9479402 | VIP VIP chronotype variant | Intergenic variant ~54 kb downstream of the VIP gene; the C allele reduces VI... | Hormones & Sleep | Strong | |
| rs61759167 | PRDM16 | Intronic PRDM16 variant reaching genome-wide significance in the first motion... | Neurology & Cognition | Strong | |
| rs61761208 | PSEN2 N141Y | Missense mutation replacing asparagine with tyrosine at position 141 of prese... | Neurology & Cognition | Strong | |
| rs6265 | BDNF Val66Met | Key neurotrophin variant that controls activity-dependent BDNF release, affec... | Neurology & Cognition | Strong | |
| rs63749884 | PSEN2 M239I | Pathogenic missense variant in PSEN2 (presenilin-2) causing autosomal dominan... | Neurology & Cognition | Strong | |
| rs63751287 | PSEN1 M233V | Pathogenic missense mutation in PSEN1 (presenilin-1) causing autosomal domina... | Neurology & Cognition | Established | |
| rs638405 | BACE1 BACE1 Exon 5 Synonymous Variant | Synonymous variant in BACE1 (beta-secretase 1) linked to modestly elevated Al... | Neurology & Cognition | Moderate | |
| rs6439886 | CLSTN2 | Intronic variant in the calsyntenin-2 gene associated with episodic memory pe... | Neurology & Cognition | Moderate | |
| rs6656401 | CR1 CR1 complement receptor Alzheimer's variant | Intronic variant in the complement receptor 1 gene; the minor A allele impair... | Neurology & Cognition | Strong | |
| rs66800491 | PVRL3 | Intergenic variant ~1.1 Mb upstream of NECTIN3/PVRL3; the strongest genome-wi... | Neurology & Cognition | Strong | |
| rs6795209 | HTR1F | Intergenic variant at the HTR1F locus on chromosome 3; the minor A allele inc... | Neurology & Cognition | Strong | |
| rs6833641 | ARAP2 | Intergenic variant near ARAP2 associated with motion sickness susceptibility ... | Neurology & Cognition | Strong | |
| rs7101429 | GAB2 GAB2 Alzheimer's risk modifier | Intronic variant in GAB2 that modulates late-onset Alzheimer's disease risk; ... | Neurology & Cognition | Moderate | |
| rs727503493 | TMPRSS3 c.208delC (p.His70Thrfs*19) | Frameshift deletion in TMPRSS3 causing premature stop at codon 88; a severe p... | Neurology & Cognition | Strong | |
| rs744373 | BIN1 | Second strongest genetic risk factor for Alzheimer's disease after APOE, asso... | Neurology & Cognition | Established | |
| rs76904798 | LRRK2 5' Regulatory Variant | Common noncoding variant upstream of LRRK2 that increases gene expression in ... | Neurology & Cognition | Strong | |
| rs7697073 | SCARB2 | Intronic SCARB2 variant associated with REM sleep behavior disorder risk via ... | Neurology & Cognition | Moderate | |
| rs78117248 | ABCA7 ABCA7 AD risk variant | Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta cl... | Neurology & Cognition | Strong | |
| rs7958311 | P2RX7 Arg270His | P2RX7 variant with a unique dual mechanism — gain-of-function in channel open... | Neurology & Cognition | Moderate | |
| rs9320913 | POU3F2 | Intergenic regulatory variant upstream of POU3F2 (BRN-2), a transcription fac... | Neurology & Cognition | Strong |