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rs57695159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57695159(C;C)
Make rs57695159(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52679867
GeneKRT1
is asnp
is mentioned by
dbSNPrs57695159
ebirs57695159
HLIrs57695159
Exacrs57695159
Varsomers57695159
Maprs57695159
PheGenIrs57695159
hapmaprs57695159
1000 genomesrs57695159
hgdprs57695159
ensemblrs57695159
gopubmedrs57695159
geneviewrs57695159
scholarrs57695159
googlers57695159
pharmgkbrs57695159
gwascentralrs57695159
openSNPrs57695159
23andMers57695159
23andMe allrs57695159
SNP Nexus

SNPshotrs57695159
SNPdbers57695159
MSV3drs57695159
GWAS Ctlgrs57695159
Max Magnitude0
OMIM139350
Desc
Variant0002
Relatedalso


ClinVar
Risk rs57695159(C;C)
Alt rs57695159(C;C)
Reference rs57695159(T;T)
Significance Pathogenic
Disease Bullous ichthyosiform erythroderma not provided
Variation info
Gene KRT1
CLNDBN Bullous ichthyosiform erythroderma not provided
Reversed 1
HGVS NC_000012.11:g.53073651A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017259.26, RCV000057083.1,