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rs137853169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853169(A;G)
Make rs137853169(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position7334060
GeneSTS
is asnp
is mentioned by
dbSNPrs137853169
ebirs137853169
HLIrs137853169
Exacrs137853169
Varsomers137853169
Maprs137853169
PheGenIrs137853169
hapmaprs137853169
1000 genomesrs137853169
hgdprs137853169
ensemblrs137853169
gopubmedrs137853169
geneviewrs137853169
scholarrs137853169
googlers137853169
pharmgkbrs137853169
gwascentralrs137853169
openSNPrs137853169
23andMers137853169
23andMe allrs137853169
SNP Nexus

SNPshotrs137853169
SNPdbers137853169
MSV3drs137853169
GWAS Ctlgrs137853169
Max Magnitude0
OMIM300747
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853169(G;G)
Alt rs137853169(G;G)
Reference rs137853169(A;A)
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.7252101A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011302.2,