rs146494374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146494374(C;T) |
Make rs146494374(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 186210508 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs146494374 |
dbSNP (classic) | rs146494374 |
ClinGen | rs146494374 |
ebi | rs146494374 |
HLI | rs146494374 |
Exac | rs146494374 |
Gnomad | rs146494374 |
Varsome | rs146494374 |
LitVar | rs146494374 |
Map | rs146494374 |
PheGenI | rs146494374 |
Biobank | rs146494374 |
1000 genomes | rs146494374 |
hgdp | rs146494374 |
ensembl | rs146494374 |
geneview | rs146494374 |
scholar | rs146494374 |
rs146494374 | |
pharmgkb | rs146494374 |
gwascentral | rs146494374 |
openSNP | rs146494374 |
23andMe | rs146494374 |
SNPshot | rs146494374 |
SNPdbe | rs146494374 |
MSV3d | rs146494374 |
GWAS Ctlg | rs146494374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146494374(A;A) rs146494374(T;T) |
Alt | rs146494374(A;A) rs146494374(T;T) |
Reference | Rs146494374(C;C) |
Significance | Pathogenic |
Disease | Bietti crystalline corneoretinal dystrophy |
Variation | info |
Gene | CYP4V2 |
CLNDBN | Bietti crystalline corneoretinal dystrophy |
Reversed | 0 |
HGVS | NC_000004.11:g.187131662C>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032534.2, |