rs55989760
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs55989760(A;A) |
Make rs55989760(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 38071195 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs55989760 |
dbSNP (classic) | rs55989760 |
ClinGen | rs55989760 |
ebi | rs55989760 |
HLI | rs55989760 |
Exac | rs55989760 |
Gnomad | rs55989760 |
Varsome | rs55989760 |
LitVar | rs55989760 |
Map | rs55989760 |
PheGenI | rs55989760 |
Biobank | rs55989760 |
1000 genomes | rs55989760 |
hgdp | rs55989760 |
ensembl | rs55989760 |
geneview | rs55989760 |
scholar | rs55989760 |
rs55989760 | |
pharmgkb | rs55989760 |
gwascentral | rs55989760 |
openSNP | rs55989760 |
23andMe | rs55989760 |
SNPshot | rs55989760 |
SNPdbe | rs55989760 |
MSV3d | rs55989760 |
GWAS Ctlg | rs55989760 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs55989760(A;A) rs55989760(C;C) |
Alt | rs55989760(A;A) rs55989760(C;C) |
Reference | Rs55989760(G;G) |
Significance | Pathogenic |
Disease | Glaucoma |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Glaucoma, congenital |
Reversed | 1 |
HGVS | NC_000002.11:g.38298338C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008174.4, |