Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894739(C;T)
Make rs104894739(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position15852419
GeneAP1S2
is asnp
is mentioned by
dbSNPrs104894739
ebirs104894739
HLIrs104894739
Exacrs104894739
Varsomers104894739
Maprs104894739
PheGenIrs104894739
hapmaprs104894739
1000 genomesrs104894739
hgdprs104894739
ensemblrs104894739
gopubmedrs104894739
geneviewrs104894739
scholarrs104894739
googlers104894739
pharmgkbrs104894739
gwascentralrs104894739
openSNPrs104894739
23andMers104894739
23andMe allrs104894739
SNP Nexus

SNPshotrs104894739
SNPdbers104894739
MSV3drs104894739
GWAS Ctlgrs104894739
Max Magnitude0
OMIM300629
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894739(T;T)
Alt rs104894739(T;T)
Reference rs104894739(C;C)
Significance Pathogenic
Disease Pettigrew syndrome
Variation info
Gene AP1S2
CLNDBN Pettigrew syndrome
Reversed 1
HGVS NC_000023.10:g.15870542G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011524.6,