rs55771538
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs55771538(G;T) |
Make rs55771538(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 38071261 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs55771538 |
dbSNP (classic) | rs55771538 |
ClinGen | rs55771538 |
ebi | rs55771538 |
HLI | rs55771538 |
Exac | rs55771538 |
Gnomad | rs55771538 |
Varsome | rs55771538 |
LitVar | rs55771538 |
Map | rs55771538 |
PheGenI | rs55771538 |
Biobank | rs55771538 |
1000 genomes | rs55771538 |
hgdp | rs55771538 |
ensembl | rs55771538 |
geneview | rs55771538 |
scholar | rs55771538 |
rs55771538 | |
pharmgkb | rs55771538 |
gwascentral | rs55771538 |
openSNP | rs55771538 |
23andMe | rs55771538 |
SNPshot | rs55771538 |
SNPdbe | rs55771538 |
MSV3d | rs55771538 |
GWAS Ctlg | rs55771538 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs55771538(C;C) rs55771538(T;T) |
Alt | rs55771538(C;C) rs55771538(T;T) |
Reference | Rs55771538(G;G) |
Significance | Pathogenic |
Disease | Glaucoma |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Glaucoma, congenital |
Reversed | 1 |
HGVS | NC_000002.11:g.38298404C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008171.5, |