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