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rs58420087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs58420087(A;G)
Make rs58420087(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52676305
GeneKRT1
is asnp
is mentioned by
dbSNPrs58420087
ebirs58420087
HLIrs58420087
Exacrs58420087
Varsomers58420087
Maprs58420087
PheGenIrs58420087
hapmaprs58420087
1000 genomesrs58420087
hgdprs58420087
ensemblrs58420087
gopubmedrs58420087
geneviewrs58420087
scholarrs58420087
googlers58420087
pharmgkbrs58420087
gwascentralrs58420087
openSNPrs58420087
23andMers58420087
23andMe allrs58420087
SNP Nexus

SNPshotrs58420087
SNPdbers58420087
MSV3drs58420087
GWAS Ctlgrs58420087
Max Magnitude0
OMIM139350
Desc
Variant0003
Relatedalso


ClinVar
Risk rs58420087(G;G)
Alt rs58420087(G;G)
Reference Rs58420087(A;A)
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.53070089T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017260.23, RCV000057065.1,