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rs137853165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853165(A;A)
Make rs137853165(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position7325356
GeneSTS
is asnp
is mentioned by
dbSNPrs137853165
dbSNP (classic)rs137853165
ClinGenrs137853165
ebirs137853165
HLIrs137853165
Exacrs137853165
Gnomadrs137853165
Varsomers137853165
LitVarrs137853165
Maprs137853165
PheGenIrs137853165
Biobankrs137853165
1000 genomesrs137853165
hgdprs137853165
ensemblrs137853165
geneviewrs137853165
scholarrs137853165
googlers137853165
pharmgkbrs137853165
gwascentralrs137853165
openSNPrs137853165
23andMers137853165
SNPshotrs137853165
SNPdbers137853165
MSV3drs137853165
GWAS Ctlgrs137853165
Max Magnitude0
OMIM300747
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853165(A;A)
Alt rs137853165(A;A)
Reference Rs137853165(T;T)
Significance Pathogenic
Disease X-linked ichthyosis with steryl-sulfatase deficiency
Variation info
Gene STS
CLNDBN X-linked ichthyosis with steryl-sulfatase deficiency
Reversed 0
HGVS NC_000023.10:g.7243397T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011298.2,