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rs137853968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853968(-;-)
Make rs137853968(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position16986615
GeneATP13A2
is asnp
is mentioned by
dbSNPrs137853968
ebirs137853968
HLIrs137853968
Exacrs137853968
Varsomers137853968
Maprs137853968
PheGenIrs137853968
hapmaprs137853968
1000 genomesrs137853968
hgdprs137853968
ensemblrs137853968
gopubmedrs137853968
geneviewrs137853968
scholarrs137853968
googlers137853968
pharmgkbrs137853968
gwascentralrs137853968
openSNPrs137853968
23andMers137853968
23andMe allrs137853968
SNP Nexus

SNPshotrs137853968
SNPdbers137853968
MSV3drs137853968
GWAS Ctlgrs137853968
Max Magnitude0
ClinVar
Risk rs137853968(;)
Alt rs137853968(;)
Reference rs137853968(C;C)
Significance Pathogenic
Disease Parkinson disease 9
Variation info
Gene ATP13A2
CLNDBN Parkinson disease 9
Reversed 1
HGVS NC_000001.10:g.17313110delG
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