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rs104893877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.5 Parkinson's disease mutation, adult-onset
(G;G) 0 common in clinvar


Make rs104893877(A;A)
ReferenceGRCh38 38.1/141
Chromosome4
Position89828149
GeneSNCA
is asnp
is mentioned by
dbSNPrs104893877
dbSNP (classic)rs104893877
ClinGenrs104893877
ebirs104893877
HLIrs104893877
Exacrs104893877
Gnomadrs104893877
Varsomers104893877
LitVarrs104893877
Maprs104893877
PheGenIrs104893877
Biobankrs104893877
1000 genomesrs104893877
hgdprs104893877
ensemblrs104893877
geneviewrs104893877
scholarrs104893877
googlers104893877
pharmgkbrs104893877
gwascentralrs104893877
openSNPrs104893877
23andMers104893877
SNPshotrs104893877
SNPdbers104893877
MSV3drs104893877
GWAS Ctlgrs104893877
Max Magnitude6.5

aka c.157G>A, p.Ala53Thr or A53T

23andMe name: i6018770

In addition to this variant's association with Parkinson's disease in general, possibly early-onset type, a 2018 publication based on the use of human stem cells reported that exposure of those cells to certain pesticides (paraquat and maneb) at relatively low levels impaired the function of dopamine-producing neurons if (and only if) they carried the A53T variant. This supports previous conclusions that pesticides increase the risk of Parkinson's disease in genetically predisposed people.[PMID 29688812]

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease.

See also OMIM 163890.0001

OMIM163890
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893877(A;A)
Alt rs104893877(A;A)
Reference Rs104893877(G;G)
Significance Pathogenic
Disease Parkinson disease 1
Variation info
Gene SNCA
CLNDBN Parkinson disease 1
Reversed 1
HGVS NC_000004.11:g.90749300C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015044.25,