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rs137853967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853967(G;G)
Make rs137853967(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16986864
GeneATP13A2
is asnp
is mentioned by
dbSNPrs137853967
ebirs137853967
HLIrs137853967
Exacrs137853967
Varsomers137853967
Maprs137853967
PheGenIrs137853967
hapmaprs137853967
1000 genomesrs137853967
hgdprs137853967
ensemblrs137853967
gopubmedrs137853967
geneviewrs137853967
scholarrs137853967
googlers137853967
pharmgkbrs137853967
gwascentralrs137853967
openSNPrs137853967
23andMers137853967
23andMe allrs137853967
SNP Nexus

SNPshotrs137853967
SNPdbers137853967
MSV3drs137853967
GWAS Ctlgrs137853967
Max Magnitude0
ClinVar
Risk rs137853967(G;G)
Alt rs137853967(G;G)
Reference Rs137853967(T;T)
Significance Pathogenic
Disease Parkinson disease 9
Variation info
Gene ATP13A2
CLNDBN Parkinson disease 9
Reversed 1
HGVS NC_000001.10:g.17313359A>C
CLNSRC
CLNACC


[PMID 21542062] Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

OMIM606693
Desc
Variant
Relatedalso