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rs137853167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853167(C;T)
Make rs137853167(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position7305109
GeneSTS
is asnp
is mentioned by
dbSNPrs137853167
ebirs137853167
HLIrs137853167
Exacrs137853167
Varsomers137853167
Maprs137853167
PheGenIrs137853167
hapmaprs137853167
1000 genomesrs137853167
hgdprs137853167
ensemblrs137853167
gopubmedrs137853167
geneviewrs137853167
scholarrs137853167
googlers137853167
pharmgkbrs137853167
gwascentralrs137853167
openSNPrs137853167
23andMers137853167
23andMe allrs137853167
SNP Nexus

SNPshotrs137853167
SNPdbers137853167
MSV3drs137853167
GWAS Ctlgrs137853167
Max Magnitude0
OMIM300747
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853167(T;T)
Alt rs137853167(T;T)
Reference rs137853167(C;C)
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.7223150C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011300.4,