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rs137852629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852629(A;A)
Make rs137852629(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52646750
GeneKRT2
is asnp
is mentioned by
dbSNPrs137852629
ebirs137852629
HLIrs137852629
Exacrs137852629
Varsomers137852629
Maprs137852629
PheGenIrs137852629
hapmaprs137852629
1000 genomesrs137852629
hgdprs137852629
ensemblrs137852629
gopubmedrs137852629
geneviewrs137852629
scholarrs137852629
googlers137852629
pharmgkbrs137852629
gwascentralrs137852629
openSNPrs137852629
23andMers137852629
23andMe allrs137852629
SNP Nexus

SNPshotrs137852629
SNPdbers137852629
MSV3drs137852629
GWAS Ctlgrs137852629
Max Magnitude0
OMIM600194
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852629(A;A)
Alt rs137852629(A;A)
Reference rs137852629(G;G)
Significance Pathogenic
Disease Ichthyosis bullosa of Siemens Ichthyosis exfoliativa not provided
Variation info
Gene KRT2
CLNDBN Ichthyosis bullosa of Siemens Ichthyosis exfoliativa not provided
Reversed 1
HGVS NC_000012.11:g.53040534C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009894.3, RCV000009895.3, RCV000056532.1,