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rs587776890

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(-;-) 8 Parkinson's mutation, type 9, early-onset
(-;AA) 3 Carrier of a Parkinson's mutation, type 9, early-onset
(AA;AA) 0 common in clinvar
(TT;TT) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome1
Position16989747
GeneATP13A2
is asnp
is mentioned by
dbSNPrs587776890
dbSNP (classic)rs587776890
ClinGenrs587776890
ebirs587776890
HLIrs587776890
Exacrs587776890
Gnomadrs587776890
Varsomers587776890
LitVarrs587776890
Maprs587776890
PheGenIrs587776890
Biobankrs587776890
1000 genomesrs587776890
hgdprs587776890
ensemblrs587776890
geneviewrs587776890
scholarrs587776890
googlers587776890
pharmgkbrs587776890
gwascentralrs587776890
openSNPrs587776890
23andMers587776890
SNPshotrs587776890
SNPdbers587776890
MSV3drs587776890
GWAS Ctlgrs587776890
Max Magnitude8

c.2552_2553delTT (p.Phe851Cysfs)

ClinVar
Risk Rs587776890(AA;AA) Rs587776890(-;-)
Alt Rs587776890(AA;AA) Rs587776890(-;-)
Reference Rs587776890(TT;TT)
Significance Pathogenic
Disease Parkinson disease 9
Variation info
Gene ATP13A2
CLNDBN Parkinson disease 9
Reversed 1
HGVS NC_000001.10:g.17316242_17316243delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023819.6,