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rs137852630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852630(A;C)
Make rs137852630(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52646774
GeneKRT2
is asnp
is mentioned by
dbSNPrs137852630
ebirs137852630
HLIrs137852630
Exacrs137852630
Varsomers137852630
Maprs137852630
PheGenIrs137852630
hapmaprs137852630
1000 genomesrs137852630
hgdprs137852630
ensemblrs137852630
gopubmedrs137852630
geneviewrs137852630
scholarrs137852630
googlers137852630
pharmgkbrs137852630
gwascentralrs137852630
openSNPrs137852630
23andMers137852630
23andMe allrs137852630
SNP Nexus

SNPshotrs137852630
SNPdbers137852630
MSV3drs137852630
GWAS Ctlgrs137852630
Max Magnitude0
OMIM600194
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852630(C;C)
Alt rs137852630(C;C)
Reference rs137852630(A;A)
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.53040558T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009897.3, RCV000056529.1,