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rs57510142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs57510142(A;C)
Make rs57510142(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52651601
GeneKRT2
is asnp
is mentioned by
dbSNPrs57510142
ebirs57510142
HLIrs57510142
Exacrs57510142
Varsomers57510142
Maprs57510142
PheGenIrs57510142
hapmaprs57510142
1000 genomesrs57510142
hgdprs57510142
ensemblrs57510142
gopubmedrs57510142
geneviewrs57510142
scholarrs57510142
googlers57510142
pharmgkbrs57510142
gwascentralrs57510142
openSNPrs57510142
23andMers57510142
23andMe allrs57510142
SNP Nexus

SNPshotrs57510142
SNPdbers57510142
MSV3drs57510142
GWAS Ctlgrs57510142
Max Magnitude0
OMIM600194
Desc
Variant0003
Relatedalso


ClinVar
Risk rs57510142(C,T;C,T)
Alt rs57510142(C,T;C,T)
Reference rs57510142(A;A)
Significance Pathogenic
Disease not provided Ichthyosis bullosa of Siemens
Variation info
Gene KRT2
CLNDBN not provided Ichthyosis bullosa of Siemens
Reversed 1
HGVS NC_000012.11:g.53045385T>A; NC_000012.11:g.53045385T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000056536.1, RCV000009896.2,