rs61371557
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs61371557(G;G) |
Make rs61371557(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41583872 |
Gene | KRT14 |
is a | snp |
is | mentioned by |
dbSNP | rs61371557 |
dbSNP (classic) | rs61371557 |
ClinGen | rs61371557 |
ebi | rs61371557 |
HLI | rs61371557 |
Exac | rs61371557 |
Gnomad | rs61371557 |
Varsome | rs61371557 |
LitVar | rs61371557 |
Map | rs61371557 |
PheGenI | rs61371557 |
Biobank | rs61371557 |
1000 genomes | rs61371557 |
hgdp | rs61371557 |
ensembl | rs61371557 |
geneview | rs61371557 |
scholar | rs61371557 |
rs61371557 | |
pharmgkb | rs61371557 |
gwascentral | rs61371557 |
openSNP | rs61371557 |
23andMe | rs61371557 |
SNPshot | rs61371557 |
SNPdbe | rs61371557 |
MSV3d | rs61371557 |
GWAS Ctlg | rs61371557 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61371557(C;C) rs61371557(G;G) |
Alt | rs61371557(C;C) rs61371557(G;G) |
Reference | Rs61371557(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.39740124A>C; NC_000017.10:g.39740124A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015721.26, RCV000056753.1, RCV000056752.2, |