rs58597584
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs58597584(A;G) |
Make rs58597584(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41571524 |
Gene | KRT9 |
is a | snp |
is | mentioned by |
dbSNP | rs58597584 |
dbSNP (classic) | rs58597584 |
ClinGen | rs58597584 |
ebi | rs58597584 |
HLI | rs58597584 |
Exac | rs58597584 |
Gnomad | rs58597584 |
Varsome | rs58597584 |
LitVar | rs58597584 |
Map | rs58597584 |
PheGenI | rs58597584 |
Biobank | rs58597584 |
1000 genomes | rs58597584 |
hgdp | rs58597584 |
ensembl | rs58597584 |
geneview | rs58597584 |
scholar | rs58597584 |
rs58597584 | |
pharmgkb | rs58597584 |
gwascentral | rs58597584 |
openSNP | rs58597584 |
23andMe | rs58597584 |
SNPshot | rs58597584 |
SNPdbe | rs58597584 |
MSV3d | rs58597584 |
GWAS Ctlg | rs58597584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58597584(C;C) rs58597584(G;G) |
Alt | rs58597584(C;C) rs58597584(G;G) |
Reference | Rs58597584(A;A) |
Significance | Pathogenic |
Disease | Epidermolytic palmoplantar keratoderma not provided |
Variation | info |
Gene | KRT9 |
CLNDBN | Epidermolytic palmoplantar keratoderma not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.39727776T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003138.2, RCV000056453.1, |