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rs137853060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of an early-onset Parkinson's mutation
(T;T) 9 Early-onset (juvenile) Parkinson's disease likely
ReferenceGRCh38 38.1/141
Chromosome6
Position161973403
GenePARK2
is asnp
is mentioned by
dbSNPrs137853060
dbSNP (classic)rs137853060
ClinGenrs137853060
ebirs137853060
HLIrs137853060
Exacrs137853060
Gnomadrs137853060
Varsomers137853060
LitVarrs137853060
Maprs137853060
PheGenIrs137853060
Biobankrs137853060
1000 genomesrs137853060
hgdprs137853060
ensemblrs137853060
geneviewrs137853060
scholarrs137853060
googlers137853060
pharmgkbrs137853060
gwascentralrs137853060
openSNPrs137853060
23andMers137853060
SNPshotrs137853060
SNPdbers137853060
MSV3drs137853060
GWAS Ctlgrs137853060
Max Magnitude9

c.633A>T (p.Lys211Asn)

OMIM602544
Desc
Variant0018
Relatedalso
ClinVar
Risk Rs137853060(T;T)
Alt Rs137853060(T;T)
Reference Rs137853060(A;A)
Significance Pathogenic
Disease Parkinson disease 2
Variation info
Gene PARK2
CLNDBN Parkinson disease 2
Reversed 1
HGVS NC_000006.11:g.162394435T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007467.3,