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rs137852931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852931(A;A)
Make rs137852931(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position130209734
GeneST14
is asnp
is mentioned by
dbSNPrs137852931
ebirs137852931
HLIrs137852931
Exacrs137852931
Varsomers137852931
Maprs137852931
PheGenIrs137852931
hapmaprs137852931
1000 genomesrs137852931
hgdprs137852931
ensemblrs137852931
gopubmedrs137852931
geneviewrs137852931
scholarrs137852931
googlers137852931
pharmgkbrs137852931
gwascentralrs137852931
openSNPrs137852931
23andMers137852931
23andMe allrs137852931
SNP Nexus

SNPshotrs137852931
SNPdbers137852931
MSV3drs137852931
GWAS Ctlgrs137852931
Max Magnitude0
OMIM606797
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852931(A;A)
Alt rs137852931(A;A)
Reference rs137852931(G;G)
Significance Pathogenic
Disease Ichthyosis
Variation info
Gene ST14
CLNDBN Ichthyosis, congenital, autosomal recessive 11
Reversed 0
HGVS NC_000011.9:g.130079629G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004253.3,