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rs137853059

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 9 Early-onset (juvenile) Parkinson's disease likely
(A;T) 3 Carrier of an early-onset Parkinson's mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position162443314
GenePARK2
is asnp
is mentioned by
dbSNPrs137853059
dbSNP (old)rs137853059
ClinGenrs137853059
ebirs137853059
HLIrs137853059
Exacrs137853059
Gnomadrs137853059
Varsomers137853059
Maprs137853059
PheGenIrs137853059
Biobankrs137853059
1000 genomesrs137853059
hgdprs137853059
ensemblrs137853059
gopubmedrs137853059
geneviewrs137853059
scholarrs137853059
googlers137853059
pharmgkbrs137853059
gwascentralrs137853059
openSNPrs137853059
23andMers137853059
23andMe allrs137853059
SNP Nexus

SNPshotrs137853059
SNPdbers137853059
MSV3drs137853059
GWAS Ctlgrs137853059
Max Magnitude9
c.167T>A (p.Val56Glu)

23andMe calls this i5007833

OMIM602544
Desc
Variant0013
Relatedalso
ClinVar
Risk Rs137853059(A;A)
Alt Rs137853059(A;A)
Reference Rs137853059(T;T)
Significance Pathogenic
Disease Parkinson disease 2
Variation info
Gene PARK2
CLNDBN Parkinson disease 2
Reversed 1
HGVS NC_000006.11:g.162864346A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007463.3,