rs587778873
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587778873(-;TCATGCCACC) |
Make rs587778873(TCATGCCACC;TCATGCCACC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 38071144 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778873 |
dbSNP (classic) | rs587778873 |
ClinGen | rs587778873 |
ebi | rs587778873 |
HLI | rs587778873 |
Exac | rs587778873 |
Gnomad | rs587778873 |
Varsome | rs587778873 |
LitVar | rs587778873 |
Map | rs587778873 |
PheGenI | rs587778873 |
Biobank | rs587778873 |
1000 genomes | rs587778873 |
hgdp | rs587778873 |
ensembl | rs587778873 |
geneview | rs587778873 |
scholar | rs587778873 |
rs587778873 | |
pharmgkb | rs587778873 |
gwascentral | rs587778873 |
openSNP | rs587778873 |
23andMe | rs587778873 |
SNPshot | rs587778873 |
SNPdbe | rs587778873 |
MSV3d | rs587778873 |
GWAS Ctlg | rs587778873 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587778873(TCATGCCACC;TCATGCCACC) |
Alt | rs587778873(TCATGCCACC;TCATGCCACC) |
Reference | Rs587778873(-;-) |
Significance | Pathogenic |
Disease | Irido-corneo-trabecular dysgenesis Glaucoma not provided |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Irido-corneo-trabecular dysgenesis Glaucoma, congenital not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.38298288_38298297dupGGTGGCATGA |
CLNSRC | |
CLNACC | RCV000059336.3, RCV000363309.1, RCV000480224.1, |