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rs34424986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an early-onset Parkinson's mutation
(T;T) 9 Early-onset (juvenile) Parkinson's disease likely
ReferenceGRCh38 38.1/142
Chromosome6
Position161785820
GenePARK2
is asnp
is mentioned by
dbSNPrs34424986
dbSNP (classic)rs34424986
ClinGenrs34424986
ebirs34424986
HLIrs34424986
Exacrs34424986
Gnomadrs34424986
Varsomers34424986
LitVarrs34424986
Maprs34424986
PheGenIrs34424986
Biobankrs34424986
1000 genomesrs34424986
hgdprs34424986
ensemblrs34424986
geneviewrs34424986
scholarrs34424986
googlers34424986
pharmgkbrs34424986
gwascentralrs34424986
openSNPrs34424986
23andMers34424986
SNPshotrs34424986
SNPdbers34424986
MSV3drs34424986
GWAS Ctlgrs34424986
GMAF0.0004591
Max Magnitude9

c.823C>T (p.Arg275Trp)

OMIM602544
Desc
Variant0017
Relatedalso


ClinVar
Risk rs34424986(A;A) Rs34424986(T;T)
Alt rs34424986(A;A) Rs34424986(T;T)
Reference Rs34424986(C;C)
Significance Other
Disease Parkinson disease 2 Parkinson Disease
Variation info
Gene PARK2
CLNDBN Parkinson disease 2 Parkinson Disease, Juvenile
Reversed 1
HGVS NC_000006.11:g.162206852G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007466.3, RCV000272835.1,