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rs587777262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777262(A;A)
Make rs587777262(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position130208685
GeneST14
is asnp
is mentioned by
dbSNPrs587777262
dbSNP (classic)rs587777262
ClinGenrs587777262
ebirs587777262
HLIrs587777262
Exacrs587777262
Gnomadrs587777262
Varsomers587777262
LitVarrs587777262
Maprs587777262
PheGenIrs587777262
Biobankrs587777262
1000 genomesrs587777262
hgdprs587777262
ensemblrs587777262
geneviewrs587777262
scholarrs587777262
googlers587777262
pharmgkbrs587777262
gwascentralrs587777262
openSNPrs587777262
23andMers587777262
SNPshotrs587777262
SNPdbers587777262
MSV3drs587777262
GWAS Ctlgrs587777262
Max Magnitude0
ClinVar
Risk rs587777262(A;A)
Alt rs587777262(A;A)
Reference Rs587777262(G;G)
Significance Pathogenic
Disease Ichthyosis
Variation info
Gene ST14
CLNDBN Ichthyosis, congenital, autosomal recessive 11
Reversed 0
HGVS NC_000011.9:g.130078580G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114359.2,