rs59856285
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs59856285(C;T) |
Make rs59856285(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41612310 |
Gene | KRT16 |
is a | snp |
is | mentioned by |
dbSNP | rs59856285 |
dbSNP (classic) | rs59856285 |
ClinGen | rs59856285 |
ebi | rs59856285 |
HLI | rs59856285 |
Exac | rs59856285 |
Gnomad | rs59856285 |
Varsome | rs59856285 |
LitVar | rs59856285 |
Map | rs59856285 |
PheGenI | rs59856285 |
Biobank | rs59856285 |
1000 genomes | rs59856285 |
hgdp | rs59856285 |
ensembl | rs59856285 |
geneview | rs59856285 |
scholar | rs59856285 |
rs59856285 | |
pharmgkb | rs59856285 |
gwascentral | rs59856285 |
openSNP | rs59856285 |
23andMe | rs59856285 |
SNPshot | rs59856285 |
SNPdbe | rs59856285 |
MSV3d | rs59856285 |
GWAS Ctlg | rs59856285 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59856285(G;G) rs59856285(T;T) |
Alt | rs59856285(G;G) rs59856285(T;T) |
Reference | Rs59856285(C;C) |
Significance | Pathogenic |
Disease | Palmoplantar keratoderma not provided |
Variation | info |
Gene | KRT16 |
CLNDBN | Palmoplantar keratoderma, nonepidermolytic, focal not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.39768562G>A; NC_000017.10:g.39768562G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015705.27, RCV000057038.2, RCV000255715.1, |