rs59510579
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs59510579(C;C) |
Make rs59510579(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41571523 |
Gene | KRT9 |
is a | snp |
is | mentioned by |
dbSNP | rs59510579 |
dbSNP (classic) | rs59510579 |
ClinGen | rs59510579 |
ebi | rs59510579 |
HLI | rs59510579 |
Exac | rs59510579 |
Gnomad | rs59510579 |
Varsome | rs59510579 |
LitVar | rs59510579 |
Map | rs59510579 |
PheGenI | rs59510579 |
Biobank | rs59510579 |
1000 genomes | rs59510579 |
hgdp | rs59510579 |
ensembl | rs59510579 |
geneview | rs59510579 |
scholar | rs59510579 |
rs59510579 | |
pharmgkb | rs59510579 |
gwascentral | rs59510579 |
openSNP | rs59510579 |
23andMe | rs59510579 |
SNPshot | rs59510579 |
SNPdbe | rs59510579 |
MSV3d | rs59510579 |
GWAS Ctlg | rs59510579 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59510579(A;A) rs59510579(C;C) rs59510579(G;G) |
Alt | rs59510579(A;A) rs59510579(C;C) rs59510579(G;G) |
Reference | Rs59510579(T;T) |
Significance | Pathogenic |
Disease | not provided Epidermolytic palmoplantar keratoderma |
Variation | info |
Gene | KRT9 |
CLNDBN | not provided Epidermolytic palmoplantar keratoderma |
Reversed | 1 |
HGVS | NC_000017.10:g.39727775A>C; NC_000017.10:g.39727775A>G; NC_000017.10:g.39727775A>T |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000056456.1, RCV000003142.2, RCV000056455.1, RCV000056454.1, |