rs58330629
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs58330629(A;A) |
Make rs58330629(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41586461 |
Gene | KRT14 |
is a | snp |
is | mentioned by |
dbSNP | rs58330629 |
dbSNP (classic) | rs58330629 |
ClinGen | rs58330629 |
ebi | rs58330629 |
HLI | rs58330629 |
Exac | rs58330629 |
Gnomad | rs58330629 |
Varsome | rs58330629 |
LitVar | rs58330629 |
Map | rs58330629 |
PheGenI | rs58330629 |
Biobank | rs58330629 |
1000 genomes | rs58330629 |
hgdp | rs58330629 |
ensembl | rs58330629 |
geneview | rs58330629 |
scholar | rs58330629 |
rs58330629 | |
pharmgkb | rs58330629 |
gwascentral | rs58330629 |
openSNP | rs58330629 |
23andMe | rs58330629 |
SNPshot | rs58330629 |
SNPdbe | rs58330629 |
MSV3d | rs58330629 |
GWAS Ctlg | rs58330629 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58330629(A;A) rs58330629(C;C) rs58330629(T;T) |
Alt | rs58330629(A;A) rs58330629(C;C) rs58330629(T;T) |
Reference | Rs58330629(G;G) |
Significance | Pathogenic |
Disease | not provided Epidermolysis bullosa herpetiformis |
Variation | info |
Gene | KRT14 |
CLNDBN | not provided Epidermolysis bullosa herpetiformis, Dowling-Meara |
Reversed | 1 |
HGVS | NC_000017.10:g.39742713C>A; NC_000017.10:g.39742713C>G; NC_000017.10:g.39742713C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056720.1, RCV000056719.1, RCV000015717.26, RCV000056718.3, |