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rs57121345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs57121345(A;C)
Make rs57121345(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position41586404
GeneKRT14
is asnp
is mentioned by
dbSNPrs57121345
ebirs57121345
HLIrs57121345
Exacrs57121345
Varsomers57121345
Maprs57121345
PheGenIrs57121345
hapmaprs57121345
1000 genomesrs57121345
hgdprs57121345
ensemblrs57121345
gopubmedrs57121345
geneviewrs57121345
scholarrs57121345
googlers57121345
pharmgkbrs57121345
gwascentralrs57121345
openSNPrs57121345
23andMers57121345
23andMe allrs57121345
SNP Nexus

SNPshotrs57121345
SNPdbers57121345
MSV3drs57121345
GWAS Ctlgrs57121345
Max Magnitude0
OMIM148066
Desc
Variant0004
Relatedalso
ClinVar
Risk rs57121345(C;C)
Alt rs57121345(C;C)
Reference rs57121345(A;A)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT14
CLNDBN Epidermolysis bullosa simplex, autosomal recessive not provided
Reversed 1
HGVS NC_000017.10:g.39742656T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015718.26, RCV000056739.1,