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rs587776738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TACAG;TACAG) 0 common in clinvar
(TGTA;TGTA) 0 common in clinvar
Make rs587776738(-;-)
Make rs587776738(-;TGTA)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15846013
GeneAP1S2
is asnp
is mentioned by
dbSNPrs587776738
ebirs587776738
HLIrs587776738
Exacrs587776738
Varsomers587776738
Maprs587776738
PheGenIrs587776738
hapmaprs587776738
1000 genomesrs587776738
hgdprs587776738
ensemblrs587776738
gopubmedrs587776738
geneviewrs587776738
scholarrs587776738
googlers587776738
pharmgkbrs587776738
gwascentralrs587776738
openSNPrs587776738
23andMers587776738
23andMe allrs587776738
SNP Nexus

SNPshotrs587776738
SNPdbers587776738
MSV3drs587776738
GWAS Ctlgrs587776738
Max Magnitude0
ClinVar
Risk rs587776738(TGTAG,G;TGTAG,G)
Alt rs587776738(TGTAG,G;TGTAG,G)
Reference rs587776738(TACAG;TACAG)
Significance Pathogenic
Disease Pettigrew syndrome
Variation info
Gene AP1S2
CLNDBN Pettigrew syndrome
Reversed 1
HGVS NC_000023.10:g.15864136_15864139delTGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011526.9,