rs57019720
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs57019720(A;A) |
Make rs57019720(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41571482 |
Gene | KRT9 |
is a | snp |
is | mentioned by |
dbSNP | rs57019720 |
dbSNP (classic) | rs57019720 |
ClinGen | rs57019720 |
ebi | rs57019720 |
HLI | rs57019720 |
Exac | rs57019720 |
Gnomad | rs57019720 |
Varsome | rs57019720 |
LitVar | rs57019720 |
Map | rs57019720 |
PheGenI | rs57019720 |
Biobank | rs57019720 |
1000 genomes | rs57019720 |
hgdp | rs57019720 |
ensembl | rs57019720 |
geneview | rs57019720 |
scholar | rs57019720 |
rs57019720 | |
pharmgkb | rs57019720 |
gwascentral | rs57019720 |
openSNP | rs57019720 |
23andMe | rs57019720 |
SNPshot | rs57019720 |
SNPdbe | rs57019720 |
MSV3d | rs57019720 |
GWAS Ctlg | rs57019720 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57019720(A;A) |
Alt | rs57019720(A;A) |
Reference | Rs57019720(G;G) |
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.39727734C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003143.2, RCV000056471.1, |