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rs57358989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs57358989(A;A)
Make rs57358989(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41586478
GeneKRT14
is asnp
is mentioned by
dbSNPrs57358989
ebirs57358989
HLIrs57358989
Exacrs57358989
Varsomers57358989
Maprs57358989
PheGenIrs57358989
hapmaprs57358989
1000 genomesrs57358989
hgdprs57358989
ensemblrs57358989
gopubmedrs57358989
geneviewrs57358989
scholarrs57358989
googlers57358989
pharmgkbrs57358989
gwascentralrs57358989
openSNPrs57358989
23andMers57358989
23andMe allrs57358989
SNP Nexus

SNPshotrs57358989
SNPdbers57358989
MSV3drs57358989
GWAS Ctlgrs57358989
Max Magnitude0
OMIM148066
Desc
Variant0010
Relatedalso


ClinVar
Risk rs57358989(A;A)
Alt rs57358989(A;A)
Reference rs57358989(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex Epidermolysis bullosa simplex not provided
Variation info
Gene KRT14
CLNDBN Epidermolysis bullosa simplex, Cockayne-Touraine type Epidermolysis bullosa simplex, autosomal recessive not provided
Reversed 1
HGVS NC_000017.10:g.39742730C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015724.25, RCV000056256.25, RCV000056709.1,