rs58762773
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs58762773(A;A) |
Make rs58762773(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41583245 |
Gene | KRT14 |
is a | snp |
is | mentioned by |
dbSNP | rs58762773 |
dbSNP (classic) | rs58762773 |
ClinGen | rs58762773 |
ebi | rs58762773 |
HLI | rs58762773 |
Exac | rs58762773 |
Gnomad | rs58762773 |
Varsome | rs58762773 |
LitVar | rs58762773 |
Map | rs58762773 |
PheGenI | rs58762773 |
Biobank | rs58762773 |
1000 genomes | rs58762773 |
hgdp | rs58762773 |
ensembl | rs58762773 |
geneview | rs58762773 |
scholar | rs58762773 |
rs58762773 | |
pharmgkb | rs58762773 |
gwascentral | rs58762773 |
openSNP | rs58762773 |
23andMe | rs58762773 |
SNPshot | rs58762773 |
SNPdbe | rs58762773 |
MSV3d | rs58762773 |
GWAS Ctlg | rs58762773 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58762773(A;A) |
Alt | rs58762773(A;A) |
Reference | Rs58762773(G;G) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa herpetiformis not provided |
Variation | info |
Gene | KRT14 |
CLNDBN | Epidermolysis bullosa herpetiformis, Dowling-Meara not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.39739497C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015728.26, RCV000056692.1, |