rs74315334
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4.8 | Primary open-angle glaucoma |
(G;G) | 0 | common in clinvar |
Make rs74315334(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 171636341 |
Gene | MYOC |
is a | snp |
is | mentioned by |
dbSNP | rs74315334 |
dbSNP (classic) | rs74315334 |
ClinGen | rs74315334 |
ebi | rs74315334 |
HLI | rs74315334 |
Exac | rs74315334 |
Gnomad | rs74315334 |
Varsome | rs74315334 |
LitVar | rs74315334 |
Map | rs74315334 |
PheGenI | rs74315334 |
Biobank | rs74315334 |
1000 genomes | rs74315334 |
hgdp | rs74315334 |
ensembl | rs74315334 |
geneview | rs74315334 |
scholar | rs74315334 |
rs74315334 | |
pharmgkb | rs74315334 |
gwascentral | rs74315334 |
openSNP | rs74315334 |
23andMe | rs74315334 |
SNPshot | rs74315334 |
SNPdbe | rs74315334 |
MSV3d | rs74315334 |
GWAS Ctlg | rs74315334 |
Max Magnitude | 4.8 |
ClinVar | |
---|---|
Risk | rs74315334(A;A) |
Alt | rs74315334(A;A) |
Reference | Rs74315334(G;G) |
Significance | Pathogenic |
Disease | Primary open angle glaucoma juvenile onset 1 not provided |
Variation | info |
Gene | MYOC |
CLNDBN | Primary open angle glaucoma juvenile onset 1 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.171605481C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008415.2, RCV000255116.1, |