rs57758262
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs57758262(A;A) |
Make rs57758262(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41571505 |
Gene | KRT9 |
is a | snp |
is | mentioned by |
dbSNP | rs57758262 |
dbSNP (classic) | rs57758262 |
ClinGen | rs57758262 |
ebi | rs57758262 |
HLI | rs57758262 |
Exac | rs57758262 |
Gnomad | rs57758262 |
Varsome | rs57758262 |
LitVar | rs57758262 |
Map | rs57758262 |
PheGenI | rs57758262 |
Biobank | rs57758262 |
1000 genomes | rs57758262 |
hgdp | rs57758262 |
ensembl | rs57758262 |
geneview | rs57758262 |
scholar | rs57758262 |
rs57758262 | |
pharmgkb | rs57758262 |
gwascentral | rs57758262 |
openSNP | rs57758262 |
23andMe | rs57758262 |
SNPshot | rs57758262 |
SNPdbe | rs57758262 |
MSV3d | rs57758262 |
GWAS Ctlg | rs57758262 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57758262(A;A) rs57758262(C;C) |
Alt | rs57758262(A;A) rs57758262(C;C) |
Reference | Rs57758262(G;G) |
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.39727757C>G; NC_000017.10:g.39727757C>T |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000056467.1, RCV000003137.2, RCV000056466.1, |