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rs57837128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57837128(C;C)
Make rs57837128(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52676314
GeneKRT1
is asnp
is mentioned by
dbSNPrs57837128
ebirs57837128
HLIrs57837128
Exacrs57837128
Varsomers57837128
Maprs57837128
PheGenIrs57837128
hapmaprs57837128
1000 genomesrs57837128
hgdprs57837128
ensemblrs57837128
gopubmedrs57837128
geneviewrs57837128
scholarrs57837128
googlers57837128
pharmgkbrs57837128
gwascentralrs57837128
openSNPrs57837128
23andMers57837128
23andMe allrs57837128
SNP Nexus

SNPshotrs57837128
SNPdbers57837128
MSV3drs57837128
GWAS Ctlgrs57837128
Max Magnitude0
OMIM139350
Desc
Variant0005
Relatedalso


ClinVar
Risk rs57837128(C;C)
Alt rs57837128(C;C)
Reference rs57837128(T;T)
Significance Pathogenic
Disease Ichthyosis not provided
Variation info
Gene KRT1
CLNDBN Ichthyosis, cyclic, with epidermolytic hyperkeratosis not provided
Reversed 1
HGVS NC_000012.11:g.53070098A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017262.27, RCV000057063.1,