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