rs59616921
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs59616921(C;T) |
Make rs59616921(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41571506 |
Gene | KRT9 |
is a | snp |
is | mentioned by |
dbSNP | rs59616921 |
dbSNP (classic) | rs59616921 |
ClinGen | rs59616921 |
ebi | rs59616921 |
HLI | rs59616921 |
Exac | rs59616921 |
Gnomad | rs59616921 |
Varsome | rs59616921 |
LitVar | rs59616921 |
Map | rs59616921 |
PheGenI | rs59616921 |
Biobank | rs59616921 |
1000 genomes | rs59616921 |
hgdp | rs59616921 |
ensembl | rs59616921 |
geneview | rs59616921 |
scholar | rs59616921 |
rs59616921 | |
pharmgkb | rs59616921 |
gwascentral | rs59616921 |
openSNP | rs59616921 |
23andMe | rs59616921 |
SNPshot | rs59616921 |
SNPdbe | rs59616921 |
MSV3d | rs59616921 |
GWAS Ctlg | rs59616921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59616921(T;T) |
Alt | rs59616921(T;T) |
Reference | Rs59616921(C;C) |
Significance | Pathogenic |
Disease | Epidermolytic palmoplantar keratoderma Palmoplantar keratoderma not provided |
Variation | info |
Gene | KRT9 |
CLNDBN | Epidermolytic palmoplantar keratoderma Palmoplantar keratoderma, epidermolytic, with knuckle pads not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.39727758G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003132.2, RCV000003133.2, RCV000056465.2, |