Tag

Neurological Risk

51 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
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
rs10456100	KCNK5	Intronic variant near KCNK5 that reduces TASK2 potassium channel expression a...	Neurology & Cognition	Neurological Risk	Strong
rs148234606	SLC52A2 Leu339Pro	Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishe...	Vitamins & Nutrient Absorption	Neurological Risk	Established
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
rs11136000	CLU	Intronic variant in clusterin gene affecting Alzheimer's disease risk through...	Neurology & Cognition	Neurological Risk	Established
rs140926439	FN1	Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk ...	Longevity & Aging	Neurological Risk	Emerging
rs117896735	INPP5F	Intronic variant in the INPP5F/BAG3 locus associated with increased risk of R...	Neurology & Cognition	Neurological Risk	Strong
rs11931074	SNCA	SNCA 3′-region variant consistently associated with Parkinson's disease risk ...	Neurology & Cognition	Neurological Risk	Strong
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Neurological Risk	Established
rs12053868	IL1RAP IL1RAP amyloid risk variant	Intronic variant in IL1RAP that impairs microglial activation, accelerating b...	Neurology & Cognition	Neurological Risk	Moderate
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	Neurological Risk	Established
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
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Neurological Risk	Established
rs3923809	BTBD9	Second independent intronic BTBD9 variant associated with restless legs syndr...	Hormones & Sleep	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
rs242557	MAPT H1c Sub-haplotype Tag	Intronic MAPT variant tagging the H1c sub-haplotype within the H1 clade, elev...	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
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
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
rs6656401	CR1 CR1 complement receptor Alzheimer's variant	Intronic variant in the complement receptor 1 gene; the minor A allele increa...	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
rs9349379	PHACTR1	Intronic regulatory variant in PHACTR1 that controls endothelin-1 and arteria...	Neurology & Cognition	Neurological Risk	Strong