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rs137853224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853224(C;C)
Make rs137853224(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52677682
GeneKRT1
is asnp
is mentioned by
dbSNPrs137853224
ebirs137853224
HLIrs137853224
Exacrs137853224
Varsomers137853224
Maprs137853224
PheGenIrs137853224
hapmaprs137853224
1000 genomesrs137853224
hgdprs137853224
ensemblrs137853224
gopubmedrs137853224
geneviewrs137853224
scholarrs137853224
googlers137853224
pharmgkbrs137853224
gwascentralrs137853224
openSNPrs137853224
23andMers137853224
23andMe allrs137853224
SNP Nexus

SNPshotrs137853224
SNPdbers137853224
MSV3drs137853224
GWAS Ctlgrs137853224
Max Magnitude0
OMIM139350
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853224(C;C)
Alt rs137853224(C;C)
Reference rs137853224(G;G)
Significance Pathogenic
Disease Bullous ichthyosiform erythroderma
Variation info
Gene KRT1
CLNDBN Bullous ichthyosiform erythroderma
Reversed 1
HGVS NC_000012.11:g.53071466C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017258.27,