rs199476199
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199476199(C;C) |
Make rs199476199(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 186205233 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs199476199 |
dbSNP (classic) | rs199476199 |
ClinGen | rs199476199 |
ebi | rs199476199 |
HLI | rs199476199 |
Exac | rs199476199 |
Gnomad | rs199476199 |
Varsome | rs199476199 |
LitVar | rs199476199 |
Map | rs199476199 |
PheGenI | rs199476199 |
Biobank | rs199476199 |
1000 genomes | rs199476199 |
hgdp | rs199476199 |
ensembl | rs199476199 |
geneview | rs199476199 |
scholar | rs199476199 |
rs199476199 | |
pharmgkb | rs199476199 |
gwascentral | rs199476199 |
openSNP | rs199476199 |
23andMe | rs199476199 |
SNPshot | rs199476199 |
SNPdbe | rs199476199 |
MSV3d | rs199476199 |
GWAS Ctlg | rs199476199 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476199(C;C) |
Alt | rs199476199(C;C) |
Reference | Rs199476199(T;T) |
Significance | Pathogenic |
Disease | Bietti crystalline corneoretinal dystrophy |
Variation | info |
Gene | CYP4V2 |
CLNDBN | Bietti crystalline corneoretinal dystrophy |
Reversed | 0 |
HGVS | NC_000004.11:g.187126387T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000032526.2, |