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rs786205056

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8 Parkinson's mutation, type 9, early-onset
(A;G) 3 Carrier of a Parkinson's mutation, type 9, early-onset
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position16996381
GeneATP13A2
is asnp
is mentioned by
dbSNPrs786205056
dbSNP (classic)rs786205056
ClinGenrs786205056
ebirs786205056
HLIrs786205056
Exacrs786205056
Gnomadrs786205056
Varsomers786205056
LitVarrs786205056
Maprs786205056
PheGenIrs786205056
Biobankrs786205056
1000 genomesrs786205056
hgdprs786205056
ensemblrs786205056
geneviewrs786205056
scholarrs786205056
googlers786205056
pharmgkbrs786205056
gwascentralrs786205056
openSNPrs786205056
23andMers786205056
SNPshotrs786205056
SNPdbers786205056
MSV3drs786205056
GWAS Ctlgrs786205056
Max Magnitude8

c.1306+5G>A

ClinVar
Risk Rs786205056(A;A)
Alt Rs786205056(A;A)
Reference Rs786205056(G;G)
Significance Pathogenic
Disease Parkinson disease 9
Variation info
Gene ATP13A2
CLNDBN Parkinson disease 9
Reversed 1
HGVS NC_000001.10:g.17322876C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001278.5,