rs199476202
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199476202(C;T) |
Make rs199476202(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 186208961 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs199476202 |
dbSNP (classic) | rs199476202 |
ClinGen | rs199476202 |
ebi | rs199476202 |
HLI | rs199476202 |
Exac | rs199476202 |
Gnomad | rs199476202 |
Varsome | rs199476202 |
LitVar | rs199476202 |
Map | rs199476202 |
PheGenI | rs199476202 |
Biobank | rs199476202 |
1000 genomes | rs199476202 |
hgdp | rs199476202 |
ensembl | rs199476202 |
geneview | rs199476202 |
scholar | rs199476202 |
rs199476202 | |
pharmgkb | rs199476202 |
gwascentral | rs199476202 |
openSNP | rs199476202 |
23andMe | rs199476202 |
SNPshot | rs199476202 |
SNPdbe | rs199476202 |
MSV3d | rs199476202 |
GWAS Ctlg | rs199476202 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476202(T;T) |
Alt | rs199476202(T;T) |
Reference | Rs199476202(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.187130115C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032529.2, |