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rs137853168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853168(C;C)
Make rs137853168(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position7325357
GeneSTS
is asnp
is mentioned by
dbSNPrs137853168
ebirs137853168
HLIrs137853168
Exacrs137853168
Varsomers137853168
Maprs137853168
PheGenIrs137853168
hapmaprs137853168
1000 genomesrs137853168
hgdprs137853168
ensemblrs137853168
gopubmedrs137853168
geneviewrs137853168
scholarrs137853168
googlers137853168
pharmgkbrs137853168
gwascentralrs137853168
openSNPrs137853168
23andMers137853168
23andMe allrs137853168
SNP Nexus

SNPshotrs137853168
SNPdbers137853168
MSV3drs137853168
GWAS Ctlgrs137853168
Max Magnitude0
OMIM300747
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853168(C;C)
Alt rs137853168(C;C)
Reference rs137853168(G;G)
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.7243398G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011301.7,