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rs1060499672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499672(A;A)
Make rs1060499672(A;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position15852527
GeneAP1S2
is asnp
is mentioned by
dbSNPrs1060499672
dbSNP (old)rs1060499672
ClinGenrs1060499672
ebirs1060499672
HLIrs1060499672
Exacrs1060499672
Gnomadrs1060499672
Varsomers1060499672
LitVarrs1060499672
Maprs1060499672
PheGenIrs1060499672
Biobankrs1060499672
1000 genomesrs1060499672
hgdprs1060499672
ensemblrs1060499672
gopubmedrs1060499672
geneviewrs1060499672
scholarrs1060499672
googlers1060499672
pharmgkbrs1060499672
gwascentralrs1060499672
openSNPrs1060499672
23andMers1060499672
23andMe allrs1060499672
SNPshotrs1060499672
SNPdbers1060499672
MSV3drs1060499672
GWAS Ctlgrs1060499672
Max Magnitude0
ClinVar
Risk rs1060499672(A;A)
Alt rs1060499672(A;A)
Reference Rs1060499672(C;C)
Significance Pathogenic
Disease Pettigrew syndrome
Variation info
Gene AP1S2
CLNDBN Pettigrew syndrome
Reversed 1
HGVS NC_000023.10:g.15870650G>T
CLNSRC
CLNACC RCV000449627.1,