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rs56829062

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs56829062(A;A)
Make rs56829062(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52646783
GeneKRT2
is asnp
is mentioned by
dbSNPrs56829062
ebirs56829062
HLIrs56829062
Exacrs56829062
Varsomers56829062
Maprs56829062
PheGenIrs56829062
hapmaprs56829062
1000 genomesrs56829062
hgdprs56829062
ensemblrs56829062
gopubmedrs56829062
geneviewrs56829062
scholarrs56829062
googlers56829062
pharmgkbrs56829062
gwascentralrs56829062
openSNPrs56829062
23andMers56829062
23andMe allrs56829062
SNP Nexus

SNPshotrs56829062
SNPdbers56829062
MSV3drs56829062
GWAS Ctlgrs56829062
Max Magnitude0
OMIM600194
Desc
Variant0006
Relatedalso


ClinVar
Risk rs56829062(A;A)
Alt rs56829062(A;A)
Reference rs56829062(G;G)
Significance Pathogenic
Disease Ichthyosis bullosa of Siemens not provided
Variation info
Gene KRT2
CLNDBN Ichthyosis bullosa of Siemens not provided
Reversed 1
HGVS NC_000012.11:g.53040567C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009899.5, RCV000056527.1,