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rs137852932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852932(A;A)
Make rs137852932(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position130159982
GeneST14
is asnp
is mentioned by
dbSNPrs137852932
dbSNP (classic)rs137852932
ClinGenrs137852932
ebirs137852932
HLIrs137852932
Exacrs137852932
Gnomadrs137852932
Varsomers137852932
LitVarrs137852932
Maprs137852932
PheGenIrs137852932
Biobankrs137852932
1000 genomesrs137852932
hgdprs137852932
ensemblrs137852932
geneviewrs137852932
scholarrs137852932
googlers137852932
pharmgkbrs137852932
gwascentralrs137852932
openSNPrs137852932
23andMers137852932
SNPshotrs137852932
SNPdbers137852932
MSV3drs137852932
GWAS Ctlgrs137852932
Max Magnitude0
OMIM606797
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852932(A;A)
Alt rs137852932(A;A)
Reference Rs137852932(G;G)
Significance Pathogenic
Disease Ichthyosis
Variation info
Gene ST14
CLNDBN Ichthyosis, congenital, autosomal recessive 11
Reversed 0
HGVS NC_000011.9:g.130029877G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004254.3,