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rs59730172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs59730172(A;A)
Make rs59730172(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52517695
GeneKRT5
is asnp
is mentioned by
dbSNPrs59730172
ebirs59730172
HLIrs59730172
Exacrs59730172
Varsomers59730172
Maprs59730172
PheGenIrs59730172
hapmaprs59730172
1000 genomesrs59730172
hgdprs59730172
ensemblrs59730172
gopubmedrs59730172
geneviewrs59730172
scholarrs59730172
googlers59730172
pharmgkbrs59730172
gwascentralrs59730172
openSNPrs59730172
23andMers59730172
23andMe allrs59730172
SNP Nexus

SNPshotrs59730172
SNPdbers59730172
MSV3drs59730172
GWAS Ctlgrs59730172
Max Magnitude0
OMIM148040
Desc
Variant0005
Relatedalso
ClinVar
Risk rs59730172(A,T;A,T)
Alt rs59730172(A,T;A,T)
Reference rs59730172(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, Cockayne-Touraine type not provided
Reversed 1
HGVS NC_000012.11:g.52911479G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015748.25, RCV000056657.1,