rs138444697
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs138444697(C;T) |
| Make rs138444697(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 186208972 |
| Gene | CYP4V2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138444697 |
| dbSNP (classic) | rs138444697 |
| ClinGen | rs138444697 |
| ebi | rs138444697 |
| HLI | rs138444697 |
| Exac | rs138444697 |
| Gnomad | rs138444697 |
| Varsome | rs138444697 |
| LitVar | rs138444697 |
| Map | rs138444697 |
| PheGenI | rs138444697 |
| Biobank | rs138444697 |
| 1000 genomes | rs138444697 |
| hgdp | rs138444697 |
| ensembl | rs138444697 |
| geneview | rs138444697 |
| scholar | rs138444697 |
| rs138444697 | |
| pharmgkb | rs138444697 |
| gwascentral | rs138444697 |
| openSNP | rs138444697 |
| 23andMe | rs138444697 |
| SNPshot | rs138444697 |
| SNPdbe | rs138444697 |
| MSV3d | rs138444697 |
| GWAS Ctlg | rs138444697 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138444697(T;T) |
| Alt | rs138444697(T;T) |
| Reference | Rs138444697(C;C) |
| Significance | Pathogenic |
| Disease | Bietti crystalline corneoretinal dystrophy not specified |
| Variation | info |
| Gene | CYP4V2 |
| CLNDBN | Bietti crystalline corneoretinal dystrophy not specified |
| Reversed | 0 |
| HGVS | NC_000004.11:g.187130126C>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032530.2, RCV000368904.1, |
