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rs587776739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776739(C;T)
Make rs587776739(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15845898
GeneAP1S2
is asnp
is mentioned by
dbSNPrs587776739
ebirs587776739
HLIrs587776739
Exacrs587776739
Varsomers587776739
Maprs587776739
PheGenIrs587776739
hapmaprs587776739
1000 genomesrs587776739
hgdprs587776739
ensemblrs587776739
gopubmedrs587776739
geneviewrs587776739
scholarrs587776739
googlers587776739
pharmgkbrs587776739
gwascentralrs587776739
openSNPrs587776739
23andMers587776739
23andMe allrs587776739
SNP Nexus

SNPshotrs587776739
SNPdbers587776739
MSV3drs587776739
GWAS Ctlgrs587776739
Max Magnitude0
ClinVar
Risk rs587776739(C,T;C,T)
Alt rs587776739(C,T;C,T)
Reference rs587776739(G;G)
Significance Pathogenic
Disease Pettigrew syndrome
Variation info
Gene AP1S2
CLNDBN Pettigrew syndrome
Reversed 1
HGVS NC_000023.10:g.15864021C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011527.8,