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rs58026994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58026994(A;A)
Make rs58026994(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position40819565
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs58026994
dbSNP (classic)rs58026994
ClinGenrs58026994
ebirs58026994
HLIrs58026994
Exacrs58026994
Gnomadrs58026994
Varsomers58026994
LitVarrs58026994
Maprs58026994
PheGenIrs58026994
Biobankrs58026994
1000 genomesrs58026994
hgdprs58026994
ensemblrs58026994
geneviewrs58026994
scholarrs58026994
googlers58026994
pharmgkbrs58026994
gwascentralrs58026994
openSNPrs58026994
23andMers58026994
SNPshotrs58026994
SNPdbers58026994
MSV3drs58026994
GWAS Ctlgrs58026994
Max Magnitude0
OMIM148080
Desc
Variant0009
Relatedalso


ClinVar
Risk rs58026994(A;A)
Alt rs58026994(A;A)
Reference Rs58026994(T;T)
Significance Pathogenic
Disease Bullous ichthyosiform erythroderma not provided
Variation info
Gene KRT10 TMEM99
CLNDBN Bullous ichthyosiform erythroderma not provided
Reversed 1
HGVS NC_000017.10:g.38975817A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015676.21, RCV000056479.1,