rs104893623
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893623(A;A) |
Make rs104893623(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 38075219 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893623 |
dbSNP (classic) | rs104893623 |
ClinGen | rs104893623 |
ebi | rs104893623 |
HLI | rs104893623 |
Exac | rs104893623 |
Gnomad | rs104893623 |
Varsome | rs104893623 |
LitVar | rs104893623 |
Map | rs104893623 |
PheGenI | rs104893623 |
Biobank | rs104893623 |
1000 genomes | rs104893623 |
hgdp | rs104893623 |
ensembl | rs104893623 |
geneview | rs104893623 |
scholar | rs104893623 |
rs104893623 | |
pharmgkb | rs104893623 |
gwascentral | rs104893623 |
openSNP | rs104893623 |
23andMe | rs104893623 |
SNPshot | rs104893623 |
SNPdbe | rs104893623 |
MSV3d | rs104893623 |
GWAS Ctlg | rs104893623 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893623(A;A) |
Alt | rs104893623(A;A) |
Reference | Rs104893623(G;G) |
Significance | Untested |
Disease | Irido-corneo-trabecular dysgenesis |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Irido-corneo-trabecular dysgenesis |
Reversed | 1 |
HGVS | NC_000002.11:g.38302362C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000028381.1, SCV000028381.1, |