Tag

Parkinson's

21 genetic variants with this tag.

RSID	Gene	Description	Category
rs10839553	CCKBR	Intronic variant near the cholecystokinin B receptor gene associated with res...	Neurology & Cognition	Parkinson's	Strong
rs117896735	INPP5F	Intronic variant in the INPP5F/BAG3 locus associated with increased risk of R...	Neurology & Cognition	Parkinson's	Strong
rs11931074	SNCA	SNCA 3′-region variant in the extended 3′ UTR that affects alpha-synuclein mR...	Neurology & Cognition	Parkinson's	Strong
rs12752133	GBA	Intronic GBA variant associated with REM sleep behavior disorder via lysosoma...	Neurology & Cognition	Parkinson's	Strong
rs199347	GPNMB	Intronic GPNMB variant that acts as a brain eQTL; the A allele increases GPNM...	Longevity & Aging	Parkinson's	Strong
rs17649553	MAPT H1/H2 Haplotype Tag	Haplotype-tagging variant distinguishing MAPT H1 and H2 clades, affecting ris...	Neurology & Cognition	Parkinson's	Strong
rs17651213	MAPT Exon 3 Splice Regulator	Intronic MAPT variant that directly regulates tau exon 3 splicing via differe...	Neurology & Cognition	Parkinson's	Strong
rs1800547	MAPT H1/H2 Haplotype Splice Regulator	Intronic MAPT variant that regulates tau exon 3 splicing via hnRNP F/Q bindin...	Neurology & Cognition	Parkinson's	Strong
rs242557	MAPT H1c Sub-haplotype Tag	Intronic MAPT variant tagging the H1c sub-haplotype within the H1 clade, inde...	Neurology & Cognition	Parkinson's	Strong
rs2471738	MAPT H1c Sub-haplotype Tag (rs2471738)	Intronic MAPT variant whose T allele co-defines the H1c sub-haplotype, indepe...	Neurology & Cognition	Parkinson's	Strong
rs2583988	SNCA	SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA...	Neurology & Cognition	Parkinson's	Emerging
rs2736990	SNCA	Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and...	Neurology & Cognition	Parkinson's	Strong
rs34311866	TMEM175	Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regul...	Neurology & Cognition	Parkinson's	Strong
rs356182	SNCA	Parkinson's disease GWAS risk variant affecting alpha-synuclein expression an...	Neurology & Cognition	Parkinson's	Strong
rs356219	SNCA	SNCA 3′-region regulatory variant that upregulates alpha-synuclein expression...	Neurology & Cognition	Parkinson's	Strong
rs387907200	SPR	Missense/splicing variant in sepiapterin reductase that reduces BH4 biosynthe...	Methylation & Detox	Parkinson's	Strong
rs3756059	SNCA	Intronic SNCA variant at the 5′ locus associated with REM sleep behavior diso...	Neurology & Cognition	Parkinson's	Strong
rs3785883	MAPT H1h Sub-haplotype Tag	Intronic MAPT variant whose A allele defines the H1h sub-haplotype — a config...	Neurology & Cognition	Parkinson's	Moderate
rs76763715	GBA N409S	GBA missense variant (p.Asn409Ser, formerly N370S) — the most common GBA path...	Neurology & Cognition	Parkinson's	Established
rs76904798	LRRK2 5' Regulatory Variant	Common noncoding variant upstream of LRRK2 that increases gene expression in ...	Neurology & Cognition	Parkinson's	Strong
rs7697073	SCARB2	Intronic SCARB2 variant associated with REM sleep behavior disorder risk via ...	Neurology & Cognition	Parkinson's	Moderate