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rs137852628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852628(G;T)
Make rs137852628(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52646748
GeneKRT2
is asnp
is mentioned by
dbSNPrs137852628
ebirs137852628
HLIrs137852628
Exacrs137852628
Varsomers137852628
Maprs137852628
PheGenIrs137852628
hapmaprs137852628
1000 genomesrs137852628
hgdprs137852628
ensemblrs137852628
gopubmedrs137852628
geneviewrs137852628
scholarrs137852628
googlers137852628
pharmgkbrs137852628
gwascentralrs137852628
openSNPrs137852628
23andMers137852628
23andMe allrs137852628
SNP Nexus

SNPshotrs137852628
SNPdbers137852628
MSV3drs137852628
GWAS Ctlgrs137852628
Max Magnitude0
OMIM600194
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852628(A,T;A,T)
Alt rs137852628(A,T;A,T)
Reference rs137852628(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.53040532C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009893.2, RCV000056533.1,