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rs60118264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60118264(C;C)
Make rs60118264(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position40822104
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs60118264
dbSNP (classic)rs60118264
ClinGenrs60118264
ebirs60118264
HLIrs60118264
Exacrs60118264
Gnomadrs60118264
Varsomers60118264
LitVarrs60118264
Maprs60118264
PheGenIrs60118264
Biobankrs60118264
1000 genomesrs60118264
hgdprs60118264
ensemblrs60118264
geneviewrs60118264
scholarrs60118264
googlers60118264
pharmgkbrs60118264
gwascentralrs60118264
openSNPrs60118264
23andMers60118264
SNPshotrs60118264
SNPdbers60118264
MSV3drs60118264
GWAS Ctlgrs60118264
Max Magnitude0
OMIM148080
Desc
Variant0002
Relatedalso


ClinVar
Risk rs60118264(C;C)
Alt rs60118264(C;C)
Reference Rs60118264(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.38978356A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015670.25, RCV000056504.1,