rs104893622
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893622(A;A) |
Make rs104893622(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 38071234 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893622 |
dbSNP (classic) | rs104893622 |
ClinGen | rs104893622 |
ebi | rs104893622 |
HLI | rs104893622 |
Exac | rs104893622 |
Gnomad | rs104893622 |
Varsome | rs104893622 |
LitVar | rs104893622 |
Map | rs104893622 |
PheGenI | rs104893622 |
Biobank | rs104893622 |
1000 genomes | rs104893622 |
hgdp | rs104893622 |
ensembl | rs104893622 |
geneview | rs104893622 |
scholar | rs104893622 |
rs104893622 | |
pharmgkb | rs104893622 |
gwascentral | rs104893622 |
openSNP | rs104893622 |
23andMe | rs104893622 |
SNPshot | rs104893622 |
SNPdbe | rs104893622 |
MSV3d | rs104893622 |
GWAS Ctlg | rs104893622 |
Merged from | Rs28936413 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893622(A;A) |
Alt | rs104893622(A;A) |
Reference | Rs104893622(G;G) |
Significance | Pathogenic |
Disease | Glaucoma |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Glaucoma, congenital |
Reversed | 1 |
HGVS | NC_000002.11:g.38298377C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008173.3, |