rs149684063
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs149684063(A;G) |
Make rs149684063(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 186196042 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs149684063 |
dbSNP (classic) | rs149684063 |
ClinGen | rs149684063 |
ebi | rs149684063 |
HLI | rs149684063 |
Exac | rs149684063 |
Gnomad | rs149684063 |
Varsome | rs149684063 |
LitVar | rs149684063 |
Map | rs149684063 |
PheGenI | rs149684063 |
Biobank | rs149684063 |
1000 genomes | rs149684063 |
hgdp | rs149684063 |
ensembl | rs149684063 |
geneview | rs149684063 |
scholar | rs149684063 |
rs149684063 | |
pharmgkb | rs149684063 |
gwascentral | rs149684063 |
openSNP | rs149684063 |
23andMe | rs149684063 |
SNPshot | rs149684063 |
SNPdbe | rs149684063 |
MSV3d | rs149684063 |
GWAS Ctlg | rs149684063 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149684063(G;G) |
Alt | rs149684063(G;G) |
Reference | Rs149684063(A;A) |
Significance | Other |
Disease | Bietti crystalline corneoretinal dystrophy not provided Corneal Dystrophy |
Variation | info |
Gene | CYP4V2 |
CLNDBN | Bietti crystalline corneoretinal dystrophy not provided Corneal Dystrophy, Recessive |
Reversed | 0 |
HGVS | NC_000004.11:g.187117196A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000032541.4, RCV000132718.1, RCV000260520.1, |