rs59878153
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs59878153(A;C) |
Make rs59878153(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41571478 |
Gene | KRT9 |
is a | snp |
is | mentioned by |
dbSNP | rs59878153 |
dbSNP (classic) | rs59878153 |
ClinGen | rs59878153 |
ebi | rs59878153 |
HLI | rs59878153 |
Exac | rs59878153 |
Gnomad | rs59878153 |
Varsome | rs59878153 |
LitVar | rs59878153 |
Map | rs59878153 |
PheGenI | rs59878153 |
Biobank | rs59878153 |
1000 genomes | rs59878153 |
hgdp | rs59878153 |
ensembl | rs59878153 |
geneview | rs59878153 |
scholar | rs59878153 |
rs59878153 | |
pharmgkb | rs59878153 |
gwascentral | rs59878153 |
openSNP | rs59878153 |
23andMe | rs59878153 |
SNPshot | rs59878153 |
SNPdbe | rs59878153 |
MSV3d | rs59878153 |
GWAS Ctlg | rs59878153 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59878153(C;C) |
Alt | rs59878153(C;C) |
Reference | Rs59878153(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.39727730T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003134.2, RCV000056472.1, |