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rs137852631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852631(A;T)
Make rs137852631(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52651587
GeneKRT2
is asnp
is mentioned by
dbSNPrs137852631
ebirs137852631
HLIrs137852631
Exacrs137852631
Varsomers137852631
Maprs137852631
PheGenIrs137852631
hapmaprs137852631
1000 genomesrs137852631
hgdprs137852631
ensemblrs137852631
gopubmedrs137852631
geneviewrs137852631
scholarrs137852631
googlers137852631
pharmgkbrs137852631
gwascentralrs137852631
openSNPrs137852631
23andMers137852631
23andMe allrs137852631
SNP Nexus

SNPshotrs137852631
SNPdbers137852631
MSV3drs137852631
GWAS Ctlgrs137852631
Max Magnitude0
OMIM600194
Desc
Variant0005
Relatedalso
OMIM600194
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852631(G,T;G,T)
Alt rs137852631(G,T;G,T)
Reference rs137852631(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.53045371T>A; NC_000012.11:g.53045371T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009898.3, RCV000056538.1, RCV000009900.5,