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rs137852632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852632(A;A)
Make rs137852632(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52651585
GeneKRT2
is asnp
is mentioned by
dbSNPrs137852632
ebirs137852632
HLIrs137852632
Exacrs137852632
Varsomers137852632
Maprs137852632
PheGenIrs137852632
hapmaprs137852632
1000 genomesrs137852632
hgdprs137852632
ensemblrs137852632
gopubmedrs137852632
geneviewrs137852632
scholarrs137852632
googlers137852632
pharmgkbrs137852632
gwascentralrs137852632
openSNPrs137852632
23andMers137852632
23andMe allrs137852632
SNP Nexus

SNPshotrs137852632
SNPdbers137852632
MSV3drs137852632
GWAS Ctlgrs137852632
Max Magnitude0
OMIM600194
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852632(A;A)
Alt rs137852632(A;A)
Reference rs137852632(C;C)
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.53045369G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009901.3, RCV000056539.1,