rs59296273
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs59296273(A;T) |
Make rs59296273(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41571512 |
Gene | KRT9 |
is a | snp |
is | mentioned by |
dbSNP | rs59296273 |
dbSNP (classic) | rs59296273 |
ClinGen | rs59296273 |
ebi | rs59296273 |
HLI | rs59296273 |
Exac | rs59296273 |
Gnomad | rs59296273 |
Varsome | rs59296273 |
LitVar | rs59296273 |
Map | rs59296273 |
PheGenI | rs59296273 |
Biobank | rs59296273 |
1000 genomes | rs59296273 |
hgdp | rs59296273 |
ensembl | rs59296273 |
geneview | rs59296273 |
scholar | rs59296273 |
rs59296273 | |
pharmgkb | rs59296273 |
gwascentral | rs59296273 |
openSNP | rs59296273 |
23andMe | rs59296273 |
SNPshot | rs59296273 |
SNPdbe | rs59296273 |
MSV3d | rs59296273 |
GWAS Ctlg | rs59296273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59296273(C;C) rs59296273(T;T) |
Alt | rs59296273(C;C) rs59296273(T;T) |
Reference | Rs59296273(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.39727764T>A; NC_000017.10:g.39727764T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003135.2, RCV000056460.1, RCV000056459.1, |