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rs587777263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777263(-;-)
Make rs587777263(-;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position130208449
GeneST14
is asnp
is mentioned by
dbSNPrs587777263
dbSNP (classic)rs587777263
ClinGenrs587777263
ebirs587777263
HLIrs587777263
Exacrs587777263
Gnomadrs587777263
Varsomers587777263
LitVarrs587777263
Maprs587777263
PheGenIrs587777263
Biobankrs587777263
1000 genomesrs587777263
hgdprs587777263
ensemblrs587777263
geneviewrs587777263
scholarrs587777263
googlers587777263
pharmgkbrs587777263
gwascentralrs587777263
openSNPrs587777263
23andMers587777263
SNPshotrs587777263
SNPdbers587777263
MSV3drs587777263
GWAS Ctlgrs587777263
Max Magnitude0
ClinVar
Risk rs587777263(-;-)
Alt rs587777263(-;-)
Reference Rs587777263(G;G)
Significance Pathogenic
Disease Ichthyosis
Variation info
Gene ST14
CLNDBN Ichthyosis, congenital, autosomal recessive 11
Reversed 0
HGVS NC_000011.9:g.130078344delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000114360.2,