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rs119451946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an early-onset Parkinson's mutation
(T;T) 8.9 Parkinson's disease, type 6, early-onset; likely
ReferenceGRCh38 38.1/141
Chromosome1
Position20648577
GenePINK1, PINK1-AS
is asnp
is mentioned by
dbSNPrs119451946
dbSNP (old)rs119451946
ClinGenrs119451946
ebirs119451946
HLIrs119451946
Exacrs119451946
Varsomers119451946
Maprs119451946
PheGenIrs119451946
Biobankrs119451946
1000 genomesrs119451946
hgdprs119451946
ensemblrs119451946
gopubmedrs119451946
geneviewrs119451946
scholarrs119451946
googlers119451946
pharmgkbrs119451946
gwascentralrs119451946
openSNPrs119451946
23andMers119451946
23andMe allrs119451946
SNP Nexus

SNPshotrs119451946
SNPdbers119451946
MSV3drs119451946
GWAS Ctlgrs119451946
Max Magnitude8.9

c.1196C>T (p.Pro399Leu)

23andMe calls this i5003745

OMIM608309
Desc
Variant0014
Relatedalso
ClinVar
Risk Rs119451946(T;T)
Alt Rs119451946(T;T)
Reference Rs119451946(C;C)
Significance Pathogenic
Disease Parkinson disease Parkinson Disease
Variation info
Gene PINK1-AS PINK1
CLNDBN Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Parkinson Disease, Recessive
Reversed 0
HGVS NC_000001.10:g.20975070C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002518.2, RCV000372794.1,