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rs59629244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs59629244(C;C)
Make rs59629244(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41583358
GeneKRT14
is asnp
is mentioned by
dbSNPrs59629244
ebirs59629244
HLIrs59629244
Exacrs59629244
Varsomers59629244
Maprs59629244
PheGenIrs59629244
hapmaprs59629244
1000 genomesrs59629244
hgdprs59629244
ensemblrs59629244
gopubmedrs59629244
geneviewrs59629244
scholarrs59629244
googlers59629244
pharmgkbrs59629244
gwascentralrs59629244
openSNPrs59629244
23andMers59629244
23andMe allrs59629244
SNP Nexus

SNPshotrs59629244
SNPdbers59629244
MSV3drs59629244
GWAS Ctlgrs59629244
Max Magnitude0
OMIM148066
Desc
Variant0001
Relatedalso


ClinVar
Risk rs59629244(C;C)
Alt rs59629244(C;C)
Reference rs59629244(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT14
CLNDBN Epidermolysis bullosa simplex, Koebner type not provided
Reversed 1
HGVS NC_000017.10:g.39739610A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015715.25, RCV000056667.1,