Tag

Neurological Risk

68 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	Neurological Risk	Strong
rs10038916	GRIA1	Intronic variant in the AMPA glutamate receptor gene GRIA1 associated with re...	Neurology & Cognition	Neurological Risk	Strong
rs104893665	SPR Arg150Gly	Pathogenic missense variant in sepiapterin reductase that abolishes BH4 biosy...	Vitamins & Nutrient Absorption	Neurological Risk	Established
rs10984447	DBC1 DBC1 multiple sclerosis susceptibility variant	Intronic variant in DBC1 (DBCCR1/BRINP1) at 9q33.1 associated with multiple s...	TNF, NF-kB & Inflammatory Cytokines	Neurological Risk	Moderate
rs1019385	GRIN2B	Promoter variant in the GRIN2B Sp1 binding site that reduces NR2B subunit exp...	Neurology & Cognition	Neurological Risk	Moderate
rs121917746	SPR Q119X	Nonsense variant in sepiapterin reductase that abolishes BH4 biosynthesis, ca...	Vitamins & Nutrient Absorption	Neurological Risk	Established
rs10405121	CACNA1A	Common intronic variant in CACNA1A — the P/Q-type calcium channel gene mutate...	Neurology & Cognition	Neurological Risk	Strong
rs121917747	SPR	Nonsense variant in sepiapterin reductase creating a premature stop codon (p....	Vitamins & Nutrient Absorption	Neurological Risk	Established
rs10456100	KCNK5	Intronic variant near KCNK5 that reduces TASK2 potassium channel expression a...	Neurology & Cognition	Neurological Risk	Strong
rs12688128	IL1RAPL2 IL1RAPL2 Intron Variant	X-linked intronic variant in IL1RAPL2, a synaptic adhesion gene expressed exc...	Endometriosis & Uterine Health	Neurological Risk	Emerging
rs10514168	TSHZ1	Intergenic variant downstream of TSHZ1, a transcription factor essential for ...	Neurology & Cognition	Neurological Risk	Strong
rs1064395	NCAN	3' UTR variant in the neurocan gene associated with bipolar disorder and schi...	Neurology & Cognition	Neurological Risk	Strong
rs10839553	CCKBR	Intronic variant near the cholecystokinin B receptor gene associated with res...	Neurology & Cognition	Neurological Risk	Strong
rs10895816	GRIA4	Intronic variant in the AMPA glutamate receptor gene GRIA4 associated with re...	Neurology & Cognition	Neurological Risk	Strong
rs148234606	SLC52A2 Leu339Pro	Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishe...	Vitamins & Nutrient Absorption	Neurological Risk	Established
rs11136000	CLU	Intronic variant in clusterin gene affecting Alzheimer's disease risk through...	Neurology & Cognition	Neurological Risk	Established
rs1421405659	MYBPC1 Leu259Pro	Ultra-rare dominant missense variant in slow skeletal myosin-binding protein ...	Fitness & Body	Neurological Risk	Strong
rs137853097	HSD17B4 N457Y	Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein;...	Metabolic Enzymes & Rare Disorders	Neurological Risk	Established
rs117896735	INPP5F	Intronic variant in the INPP5F/BAG3 locus associated with increased risk of R...	Neurology & Cognition	Neurological Risk	Strong
rs140926439	FN1	Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk ...	Longevity & Aging	Neurological Risk	Emerging
rs11931074	SNCA	SNCA 3′-region variant in the extended 3′ UTR that affects alpha-synuclein mR...	Neurology & Cognition	Neurological Risk	Strong
rs12053868	IL1RAP IL1RAP amyloid risk variant	Intronic variant in IL1RAP that impairs microglial activation, accelerating b...	Neurology & Cognition	Neurological Risk	Moderate
rs12693542	SLC40A1	Regulatory variant upstream of ferroportin (the sole cellular iron exporter) ...	Neurology & Cognition	Neurological Risk	Strong
rs12752133	GBA	Intronic GBA variant associated with REM sleep behavior disorder via lysosoma...	Neurology & Cognition	Neurological Risk	Strong
rs2531693353	HSD17B4 c.715-1G>A (splice acceptor)	Rare splice acceptor variant disrupting intron 9 of D-bifunctional protein; b...	Metabolic Enzymes & Rare Disorders	Neurological Risk	Established
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Neurological Risk	Established
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	Neurological Risk	Established
rs17649553	MAPT H1/H2 Haplotype Tag	Haplotype-tagging variant distinguishing MAPT H1 and H2 clades, affecting ris...	Neurology & Cognition	Neurological Risk	Strong
rs17651213	MAPT Exon 3 Splice Regulator	Intronic MAPT variant that directly regulates tau exon 3 splicing via differe...	Neurology & Cognition	Neurological Risk	Strong
rs17857135	RNF213 Met270Thr	Missense variant (Met270Thr) in RNF213, the major moyamoya disease susceptibi...	Neurology & Cognition	Neurological Risk	Strong
rs1800547	MAPT H1/H2 Haplotype Splice Regulator	Intronic MAPT variant that regulates tau exon 3 splicing via hnRNP F/Q bindin...	Neurology & Cognition	Neurological Risk	Strong
rs1906252	POU3F2	Regulatory variant at chromosome 6q16.1 near POU3F2 (BRN2), a master transcri...	Neurology & Cognition	Neurological Risk	Strong
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Neurological Risk	Established
rs2325751	PNPO	Regulatory variant 2 kb upstream of PNPO that may alter expression of the vit...	Hormones & Sleep	Neurological Risk	Emerging
rs2153535	BLOC1S5	Regulatory variant near MUTED/BLOC1S5, a gene whose mouse homolog controls ot...	Neurology & Cognition	Neurological Risk	Strong
rs2306402	CTNNA3	Intronic variant in the alpha-T-catenin gene associated with modestly increas...	Neurology & Cognition	Neurological Risk	Emerging
rs587776949	NDUFS4	Frameshift deletion in NDUFS4 abolishing mitochondrial complex I function; ho...	Longevity & Aging	Neurological Risk	Established
rs242557	MAPT H1c Sub-haplotype Tag	Intronic MAPT variant tagging the H1c sub-haplotype within the H1 clade, inde...	Neurology & Cognition	Neurological Risk	Strong
rs2471738	MAPT H1c Sub-haplotype Tag (rs2471738)	Intronic MAPT variant whose T allele co-defines the H1c sub-haplotype, indepe...	Neurology & Cognition	Neurological Risk	Strong
rs2583988	SNCA	SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA...	Neurology & Cognition	Neurological Risk	Emerging
rs3923809	BTBD9	Second independent intronic BTBD9 variant associated with restless legs syndr...	Hormones & Sleep	Neurological Risk	Strong
rs4307059	CDH9/CDH10	Intergenic variant at 5p14.1 between neuronal cell-adhesion genes CDH9 and CD...	Hormones & Sleep	Neurological Risk	Strong
rs2736990	SNCA	Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and...	Neurology & Cognition	Neurological Risk	Strong
rs306960	PTK2	Intronic variant in PTK2 (focal adhesion kinase) linked to restless legs synd...	Neurology & Cognition	Neurological Risk	Strong
rs34311866	TMEM175	Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regul...	Neurology & Cognition	Neurological Risk	Strong
rs356182	SNCA	Parkinson's disease GWAS risk variant affecting alpha-synuclein expression an...	Neurology & Cognition	Neurological Risk	Strong
rs356219	SNCA	SNCA 3′-region regulatory variant that upregulates alpha-synuclein expression...	Neurology & Cognition	Neurological Risk	Strong
rs3756059	SNCA	Intronic SNCA variant at the 5′ locus associated with REM sleep behavior diso...	Neurology & Cognition	Neurological Risk	Strong
rs3785883	MAPT H1h Sub-haplotype Tag	Intronic MAPT variant whose A allele defines the H1h sub-haplotype — a config...	Neurology & Cognition	Neurological Risk	Moderate
rs3851179	PICALM	Variant in the PICALM gene affecting amyloid-beta clearance across the blood-...	Neurology & Cognition	Neurological Risk	Established
rs9394502	BTBD9 BTBD9 insomnia/RLS variant	Intronic variant in the canonical restless legs syndrome gene BTBD9, associat...	Hormones & Sleep	Neurological Risk	Strong
rs61759167	PRDM16	Intronic PRDM16 variant reaching genome-wide significance in the first motion...	Neurology & Cognition	Neurological Risk	Strong
rs63749884	PSEN2 M239I	Pathogenic missense variant in PSEN2 (presenilin-2) causing autosomal dominan...	Neurology & Cognition	Neurological Risk	Strong
rs63749891	PSEN1 R278I / R278T	Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase ...	Neurology & Cognition	Neurological Risk	Established
rs63750066	APP A713T (Calabrian)	Rare pathogenic missense variant in APP at the gamma-secretase cleavage site ...	Neurology & Cognition	Neurological Risk	Strong
rs63751122	APP L723P (Australian)	Rare pathogenic missense variant in APP near the gamma-secretase cleavage sit...	Neurology & Cognition	Neurological Risk	Strong
rs63751287	PSEN1 M233V	Pathogenic missense mutation in PSEN1 (presenilin-1) causing autosomal domina...	Neurology & Cognition	Neurological Risk	Established
rs6656401	CR1 CR1 complement receptor Alzheimer's variant	Intronic variant in the complement receptor 1 gene; the minor A allele impair...	Neurology & Cognition	Neurological Risk	Strong
rs66800491	PVRL3	Intergenic variant ~1.1 Mb upstream of NECTIN3/PVRL3; the strongest genome-wi...	Neurology & Cognition	Neurological Risk	Strong
rs67338227	FHL5	Intronic variant in FHL5 (four and a half LIM domains 5), a transcriptional c...	Neurology & Cognition	Neurological Risk	Strong
rs6897932	IL7R T244I	Splicing variant in the IL-7 receptor alpha chain that shifts the balance tow...	Neurology & Cognition	Neurological Risk	Strong
rs744373	BIN1	Second strongest genetic risk factor for Alzheimer's disease after APOE, asso...	Neurology & Cognition	Neurological Risk	Established
rs75932628	TREM2 R47H	Rare missense variant in microglial receptor TREM2 that significantly increas...	Neurology & Cognition	Neurological Risk	Established
rs76763715	GBA N409S	GBA missense variant (p.Asn409Ser, formerly N370S) — the most common GBA path...	Neurology & Cognition	Neurological Risk	Established
rs76904798	LRRK2 5' Regulatory Variant	Common noncoding variant upstream of LRRK2 that increases gene expression in ...	Neurology & Cognition	Neurological Risk	Strong
rs7697073	SCARB2	Intronic SCARB2 variant associated with REM sleep behavior disorder risk via ...	Neurology & Cognition	Neurological Risk	Moderate
rs9320913	POU3F2	Intergenic regulatory variant upstream of POU3F2 (BRN-2), a transcription fac...	Neurology & Cognition	Neurological Risk	Strong
rs9349379	PHACTR1	Intronic regulatory variant in PHACTR1 that controls endothelin-1 and arteria...	Neurology & Cognition	Neurological Risk	Strong