rs104893877

minus

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

Make rs104893877(A;A)

Reference

GRCh38 38.1/141

Chromosome

4

Position

89828149

Gene

SNCA

is a	snp
is	mentioned by
dbSNP	rs104893877
dbSNP (classic)	rs104893877
ClinGen	rs104893877
ebi	rs104893877
HLI	rs104893877
Exac	rs104893877
Gnomad	rs104893877
Varsome	rs104893877
LitVar	rs104893877
Map	rs104893877
PheGenI	rs104893877
Biobank	rs104893877
1000 genomes	rs104893877
hgdp	rs104893877
ensembl	rs104893877
geneview	rs104893877
scholar	rs104893877
google	rs104893877
pharmgkb	rs104893877
gwascentral	rs104893877
openSNP	rs104893877
23andMe	rs104893877
SNPshot	rs104893877
SNPdbe	rs104893877
MSV3d	rs104893877
GWAS Ctlg	rs104893877

Max Magnitude

6.5

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.

OMIM	163890
Desc
Variant	0001
Related	also

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,