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rs137853051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of an early-onset Parkinson's mutation
(T;T) 8.7 Parkinson's disease, type 7, early-onset
ReferenceGRCh38 38.1/141
Chromosome1
Position7965348
GenePARK7
is asnp
is mentioned by
dbSNPrs137853051
dbSNP (old)rs137853051
ClinGenrs137853051
ebirs137853051
HLIrs137853051
Exacrs137853051
Gnomadrs137853051
Varsomers137853051
Maprs137853051
PheGenIrs137853051
Biobankrs137853051
1000 genomesrs137853051
hgdprs137853051
ensemblrs137853051
gopubmedrs137853051
geneviewrs137853051
scholarrs137853051
googlers137853051
pharmgkbrs137853051
gwascentralrs137853051
openSNPrs137853051
23andMers137853051
23andMe allrs137853051
SNP Nexus

SNPshotrs137853051
SNPdbers137853051
MSV3drs137853051
GWAS Ctlgrs137853051
Max Magnitude8.7

c.115G>T (p.Ala39Ser)

23andMe names this i5047046

OMIM602533
Desc
Variant0007
Relatedalso
ClinVar
Risk Rs137853051(T;T)
Alt Rs137853051(T;T)
Reference Rs137853051(G;G)
Significance Pathogenic
Disease Parkinson disease
Variation info
Gene PARK7
CLNDBN Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
Reversed 0
HGVS NC_000001.10:g.8025408G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007485.3,