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rs57499817

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs57499817(C;T)
Make rs57499817(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52520223
GeneKRT5
is asnp
is mentioned by
dbSNPrs57499817
ebirs57499817
HLIrs57499817
Exacrs57499817
Varsomers57499817
Maprs57499817
PheGenIrs57499817
hapmaprs57499817
1000 genomesrs57499817
hgdprs57499817
ensemblrs57499817
gopubmedrs57499817
geneviewrs57499817
scholarrs57499817
googlers57499817
pharmgkbrs57499817
gwascentralrs57499817
openSNPrs57499817
23andMers57499817
23andMe allrs57499817
SNP Nexus

SNPshotrs57499817
SNPdbers57499817
MSV3drs57499817
GWAS Ctlgrs57499817
Max Magnitude0
OMIM148040
Desc
Variant0009
Relatedalso


ClinVar
Risk rs57499817(T;T)
Alt rs57499817(T;T)
Reference rs57499817(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa simplex with mottled pigmentation not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex with mottled pigmentation not provided
Reversed 1
HGVS NC_000012.11:g.52914007G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015754.22, RCV000056643.1,



[PMID 1049409] The adult learner in nursing: a program of continuing education in a hospital based school of nursing.


[PMID 2476664OA-icon.png] Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control.


[PMID 8799157OA-icon.png] The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.


[PMID 9129237] A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.


[PMID 11167681] Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.