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rs57959072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57959072(G;G)
Make rs57959072(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52679885
GeneKRT1
is asnp
is mentioned by
dbSNPrs57959072
ebirs57959072
HLIrs57959072
Exacrs57959072
Varsomers57959072
Maprs57959072
PheGenIrs57959072
hapmaprs57959072
1000 genomesrs57959072
hgdprs57959072
ensemblrs57959072
gopubmedrs57959072
geneviewrs57959072
scholarrs57959072
googlers57959072
pharmgkbrs57959072
gwascentralrs57959072
openSNPrs57959072
23andMers57959072
23andMe allrs57959072
SNP Nexus

SNPshotrs57959072
SNPdbers57959072
MSV3drs57959072
GWAS Ctlgrs57959072
Max Magnitude0
OMIM139350
Desc
Variant0007
Relatedalso
ClinVar
Risk rs57959072(A,G;A,G)
Alt rs57959072(A,G;A,G)
Reference rs57959072(T;T)
Significance Pathogenic
Disease not provided Bullous ichthyosiform erythroderma
Variation info
Gene KRT1
CLNDBN not provided Bullous ichthyosiform erythroderma
Reversed 1
HGVS NC_000012.11:g.53073669A>C; NC_000012.11:g.53073669A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057082.1, RCV000017264.23, RCV000057081.1,