rs57348201
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs57348201(A;T) |
Make rs57348201(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 52516662 |
Gene | KRT5 |
is a | snp |
is | mentioned by |
dbSNP | rs57348201 |
dbSNP (classic) | rs57348201 |
ClinGen | rs57348201 |
ebi | rs57348201 |
HLI | rs57348201 |
Exac | rs57348201 |
Gnomad | rs57348201 |
Varsome | rs57348201 |
LitVar | rs57348201 |
Map | rs57348201 |
PheGenI | rs57348201 |
Biobank | rs57348201 |
1000 genomes | rs57348201 |
hgdp | rs57348201 |
ensembl | rs57348201 |
geneview | rs57348201 |
scholar | rs57348201 |
rs57348201 | |
pharmgkb | rs57348201 |
gwascentral | rs57348201 |
openSNP | rs57348201 |
23andMe | rs57348201 |
SNPshot | rs57348201 |
SNPdbe | rs57348201 |
MSV3d | rs57348201 |
GWAS Ctlg | rs57348201 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57348201(C;C) rs57348201(T;T) |
Alt | rs57348201(C;C) rs57348201(T;T) |
Reference | Rs57348201(A;A) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa simplex not provided |
Variation | info |
Gene | KRT5 |
CLNDBN | Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.52910446T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015760.25, RCV000056560.1, |