rs199476203
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199476203(A;A) |
Make rs199476203(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 186208973 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs199476203 |
dbSNP (classic) | rs199476203 |
ClinGen | rs199476203 |
ebi | rs199476203 |
HLI | rs199476203 |
Exac | rs199476203 |
Gnomad | rs199476203 |
Varsome | rs199476203 |
LitVar | rs199476203 |
Map | rs199476203 |
PheGenI | rs199476203 |
Biobank | rs199476203 |
1000 genomes | rs199476203 |
hgdp | rs199476203 |
ensembl | rs199476203 |
geneview | rs199476203 |
scholar | rs199476203 |
rs199476203 | |
pharmgkb | rs199476203 |
gwascentral | rs199476203 |
openSNP | rs199476203 |
23andMe | rs199476203 |
SNPshot | rs199476203 |
SNPdbe | rs199476203 |
MSV3d | rs199476203 |
GWAS Ctlg | rs199476203 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476203(A;A) rs199476203(T;T) |
Alt | rs199476203(A;A) rs199476203(T;T) |
Reference | Rs199476203(G;G) |
Significance | Pathogenic |
Disease | Bietti crystalline corneoretinal dystrophy |
Variation | info |
Gene | CYP4V2 |
CLNDBN | Bietti crystalline corneoretinal dystrophy |
Reversed | 0 |
HGVS | NC_000004.11:g.187130127G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032531.2, |