rs74315332
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 4.8 | Primary open-angle glaucoma |
(C;C) | 0 | common in clinvar |
Make rs74315332(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 171636000 |
Gene | MYOC |
is a | snp |
is | mentioned by |
dbSNP | rs74315332 |
dbSNP (classic) | rs74315332 |
ClinGen | rs74315332 |
ebi | rs74315332 |
HLI | rs74315332 |
Exac | rs74315332 |
Gnomad | rs74315332 |
Varsome | rs74315332 |
LitVar | rs74315332 |
Map | rs74315332 |
PheGenI | rs74315332 |
Biobank | rs74315332 |
1000 genomes | rs74315332 |
hgdp | rs74315332 |
ensembl | rs74315332 |
geneview | rs74315332 |
scholar | rs74315332 |
rs74315332 | |
pharmgkb | rs74315332 |
gwascentral | rs74315332 |
openSNP | rs74315332 |
23andMe | rs74315332 |
SNPshot | rs74315332 |
SNPdbe | rs74315332 |
MSV3d | rs74315332 |
GWAS Ctlg | rs74315332 |
Max Magnitude | 4.8 |
ClinVar | |
---|---|
Risk | rs74315332(A;A) |
Alt | rs74315332(A;A) |
Reference | Rs74315332(C;C) |
Significance | Pathogenic |
Disease | Primary open angle glaucoma juvenile onset 1 |
Variation | info |
Gene | MYOC |
CLNDBN | Primary open angle glaucoma juvenile onset 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.171605140G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008414.2, |