rs121909193
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 4.8 | Primary open-angle glaucoma |
Make rs121909193(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 171636349 |
Gene | MYOC |
is a | snp |
is | mentioned by |
dbSNP | rs121909193 |
dbSNP (classic) | rs121909193 |
ClinGen | rs121909193 |
ebi | rs121909193 |
HLI | rs121909193 |
Exac | rs121909193 |
Gnomad | rs121909193 |
Varsome | rs121909193 |
LitVar | rs121909193 |
Map | rs121909193 |
PheGenI | rs121909193 |
Biobank | rs121909193 |
1000 genomes | rs121909193 |
hgdp | rs121909193 |
ensembl | rs121909193 |
geneview | rs121909193 |
scholar | rs121909193 |
rs121909193 | |
pharmgkb | rs121909193 |
gwascentral | rs121909193 |
openSNP | rs121909193 |
23andMe | rs121909193 |
SNPshot | rs121909193 |
SNPdbe | rs121909193 |
MSV3d | rs121909193 |
GWAS Ctlg | rs121909193 |
Max Magnitude | 4.8 |
ClinVar | |
---|---|
Risk | rs121909193(T;T) |
Alt | rs121909193(T;T) |
Reference | Rs121909193(G;G) |
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.171605489C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008410.2, |