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rs137853225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853225(C;C)
Make rs137853225(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52676326
GeneKRT1
is asnp
is mentioned by
dbSNPrs137853225
ebirs137853225
HLIrs137853225
Exacrs137853225
Varsomers137853225
Maprs137853225
PheGenIrs137853225
hapmaprs137853225
1000 genomesrs137853225
hgdprs137853225
ensemblrs137853225
gopubmedrs137853225
geneviewrs137853225
scholarrs137853225
googlers137853225
pharmgkbrs137853225
gwascentralrs137853225
openSNPrs137853225
23andMers137853225
23andMe allrs137853225
SNP Nexus

SNPshotrs137853225
SNPdbers137853225
MSV3drs137853225
GWAS Ctlgrs137853225
Max Magnitude0
OMIM139350
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853225(C;C)
Alt rs137853225(C;C)
Reference rs137853225(T;T)
Significance Pathogenic
Disease Bullous ichthyosiform erythroderma
Variation info
Gene KRT1
CLNDBN Bullous ichthyosiform erythroderma
Reversed 1
HGVS NC_000012.11:g.53070110A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017266.27,