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rs59115483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs59115483(A;A)
Make rs59115483(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519789
GeneKRT5
is asnp
is mentioned by
dbSNPrs59115483
ebirs59115483
HLIrs59115483
Exacrs59115483
Varsomers59115483
Maprs59115483
PheGenIrs59115483
hapmaprs59115483
1000 genomesrs59115483
hgdprs59115483
ensemblrs59115483
gopubmedrs59115483
geneviewrs59115483
scholarrs59115483
googlers59115483
pharmgkbrs59115483
gwascentralrs59115483
openSNPrs59115483
23andMers59115483
23andMe allrs59115483
SNP Nexus

SNPshotrs59115483
SNPdbers59115483
MSV3drs59115483
GWAS Ctlgrs59115483
Max Magnitude0
OMIM148040
Desc
Variant0020
Relatedalso


ClinVar
Risk rs59115483(A;A)
Alt rs59115483(A;A)
Reference rs59115483(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex Epidermolysis bullosa simplex not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, autosomal recessive Epidermolysis bullosa simplex, Cockayne-Touraine type not provided
Reversed 1
HGVS NC_000012.11:g.52913573C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015763.26, RCV000015764.26, RCV000056603.1,