rs28936694
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
(G;T) | 4.8 | Primary open-angle glaucoma |
Make rs28936694(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 171636244 |
Gene | MYOC |
is a | snp |
is | mentioned by |
dbSNP | rs28936694 |
dbSNP (classic) | rs28936694 |
ClinGen | rs28936694 |
ebi | rs28936694 |
HLI | rs28936694 |
Exac | rs28936694 |
Gnomad | rs28936694 |
Varsome | rs28936694 |
LitVar | rs28936694 |
Map | rs28936694 |
PheGenI | rs28936694 |
Biobank | rs28936694 |
1000 genomes | rs28936694 |
hgdp | rs28936694 |
ensembl | rs28936694 |
geneview | rs28936694 |
scholar | rs28936694 |
rs28936694 | |
pharmgkb | rs28936694 |
gwascentral | rs28936694 |
openSNP | rs28936694 |
23andMe | rs28936694 |
SNPshot | rs28936694 |
SNPdbe | rs28936694 |
MSV3d | rs28936694 |
GWAS Ctlg | rs28936694 |
Max Magnitude | 4.8 |
ClinVar | |
---|---|
Risk | rs28936694(T;T) |
Alt | rs28936694(T;T) |
Reference | Rs28936694(G;G) |
Significance | Pathogenic |
Disease | Glaucoma 1 |
Variation | info |
Gene | MYOC |
CLNDBN | Glaucoma 1, open angle, a, digenic |
Reversed | 1 |
HGVS | NC_000001.10:g.171605384C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008420.2, |