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rs57784225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs57784225(A;C)
Make rs57784225(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position40822126
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs57784225
dbSNP (classic)rs57784225
ClinGenrs57784225
ebirs57784225
HLIrs57784225
Exacrs57784225
Gnomadrs57784225
Varsomers57784225
LitVarrs57784225
Maprs57784225
PheGenIrs57784225
Biobankrs57784225
1000 genomesrs57784225
hgdprs57784225
ensemblrs57784225
geneviewrs57784225
scholarrs57784225
googlers57784225
pharmgkbrs57784225
gwascentralrs57784225
openSNPrs57784225
23andMers57784225
SNPshotrs57784225
SNPdbers57784225
MSV3drs57784225
GWAS Ctlgrs57784225
Max Magnitude0
OMIM148080
Desc
Variant0007
Relatedalso


ClinVar
Risk rs57784225(C;C)
Alt rs57784225(C;C)
Reference Rs57784225(A;A)
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.38978378T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015672.25, RCV000056493.1,