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rs587777542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777542(A;A)
Make rs587777542(A;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15845378
GeneAP1S2
is asnp
is mentioned by
dbSNPrs587777542
ebirs587777542
HLIrs587777542
Exacrs587777542
Varsomers587777542
Maprs587777542
PheGenIrs587777542
hapmaprs587777542
1000 genomesrs587777542
hgdprs587777542
ensemblrs587777542
gopubmedrs587777542
geneviewrs587777542
scholarrs587777542
googlers587777542
pharmgkbrs587777542
gwascentralrs587777542
openSNPrs587777542
23andMers587777542
23andMe allrs587777542
SNP Nexus

SNPshotrs587777542
SNPdbers587777542
MSV3drs587777542
GWAS Ctlgrs587777542
Max Magnitude0
ClinVar
Risk rs587777542(A,C;A,C)
Alt rs587777542(A,C;A,C)
Reference rs587777542(G;G)
Significance Pathogenic
Disease Pettigrew syndrome
Variation info
Gene AP1S2
CLNDBN Pettigrew syndrome
Reversed 1
HGVS NC_000023.10:g.15863501C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128636.4,