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rs1043424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1043424(A;C)
Make rs1043424(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position20650507
GenePINK1, PINK1-AS
is asnp
is mentioned by
dbSNPrs1043424
dbSNP (old)rs1043424
ClinGenrs1043424
ebirs1043424
HLIrs1043424
Exacrs1043424
Gnomadrs1043424
Varsomers1043424
Maprs1043424
PheGenIrs1043424
Biobankrs1043424
1000 genomesrs1043424
hgdprs1043424
ensemblrs1043424
gopubmedrs1043424
geneviewrs1043424
scholarrs1043424
googlers1043424
pharmgkbrs1043424
gwascentralrs1043424
openSNPrs1043424
23andMers1043424
23andMe allrs1043424
SNPshotrs1043424
SNPdbers1043424
MSV3drs1043424
GWAS Ctlgrs1043424
GMAF0.2805
Max Magnitude0
? (A;A) (A;C) (C;C) 28



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ClinVar
Risk rs1043424(C;C)
Alt rs1043424(C;C)
Reference Rs1043424(A;A)
Significance Probable-non-pathogenic
Disease Congenital disorder of glycosylation Parkinson Disease
Variation info
Gene PINK1-AS PINK1
CLNDBN Congenital disorder of glycosylation Parkinson Disease, Recessive
Reversed 0
HGVS NC_000001.10:g.20977000A>C
CLNSRC
CLNACC RCV000362537.1, RCV000408170.1,