rs144109267
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs144109267(A;G) |
Make rs144109267(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 186209260 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs144109267 |
dbSNP (classic) | rs144109267 |
ClinGen | rs144109267 |
ebi | rs144109267 |
HLI | rs144109267 |
Exac | rs144109267 |
Gnomad | rs144109267 |
Varsome | rs144109267 |
LitVar | rs144109267 |
Map | rs144109267 |
PheGenI | rs144109267 |
Biobank | rs144109267 |
1000 genomes | rs144109267 |
hgdp | rs144109267 |
ensembl | rs144109267 |
geneview | rs144109267 |
scholar | rs144109267 |
rs144109267 | |
pharmgkb | rs144109267 |
gwascentral | rs144109267 |
openSNP | rs144109267 |
23andMe | rs144109267 |
SNPshot | rs144109267 |
SNPdbe | rs144109267 |
MSV3d | rs144109267 |
GWAS Ctlg | rs144109267 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144109267(G;G) |
Alt | rs144109267(G;G) |
Reference | Rs144109267(A;A) |
Significance | Pathogenic |
Disease | Bietti crystalline corneoretinal dystrophy |
Variation | info |
Gene | CYP4V2 |
CLNDBN | Bietti crystalline corneoretinal dystrophy |
Reversed | 0 |
HGVS | NC_000004.11:g.187130414A>G |
CLNSRC | HGMD |
CLNACC | RCV000153133.3, |