rs74315436
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 4 | keratoconus |
(T;T) | 0 | common in clinvar |
Make rs74315436(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 25082047 |
Gene | VSX1 |
is a | snp |
is | mentioned by |
dbSNP | rs74315436 |
dbSNP (classic) | rs74315436 |
ClinGen | rs74315436 |
ebi | rs74315436 |
HLI | rs74315436 |
Exac | rs74315436 |
Gnomad | rs74315436 |
Varsome | rs74315436 |
LitVar | rs74315436 |
Map | rs74315436 |
PheGenI | rs74315436 |
Biobank | rs74315436 |
1000 genomes | rs74315436 |
hgdp | rs74315436 |
ensembl | rs74315436 |
geneview | rs74315436 |
scholar | rs74315436 |
rs74315436 | |
pharmgkb | rs74315436 |
gwascentral | rs74315436 |
openSNP | rs74315436 |
23andMe | rs74315436 |
SNPshot | rs74315436 |
SNPdbe | rs74315436 |
MSV3d | rs74315436 |
GWAS Ctlg | rs74315436 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | rs74315436(C;C) |
Alt | rs74315436(C;C) |
Reference | Rs74315436(T;T) |
Significance | Pathogenic |
Disease | Keratoconus 1 Posterior Polymorphous Corneal Dystrophy |
Variation | info |
Gene | VSX1 |
CLNDBN | Keratoconus 1 Posterior Polymorphous Corneal Dystrophy |
Reversed | 1 |
HGVS | NC_000020.10:g.25062683A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005563.5, RCV000396085.1, |