rs140256288
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a retinal cone dystrophy 3B mutation |
| Make rs140256288(A;A) |
| Make rs140256288(A;G) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 9 |
| Position | 2718181 |
| Gene | KCNV2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140256288 |
| dbSNP (classic) | rs140256288 |
| ClinGen | rs140256288 |
| ebi | rs140256288 |
| HLI | rs140256288 |
| Exac | rs140256288 |
| Gnomad | rs140256288 |
| Varsome | rs140256288 |
| LitVar | rs140256288 |
| Map | rs140256288 |
| PheGenI | rs140256288 |
| Biobank | rs140256288 |
| 1000 genomes | rs140256288 |
| hgdp | rs140256288 |
| ensembl | rs140256288 |
| geneview | rs140256288 |
| scholar | rs140256288 |
| rs140256288 | |
| pharmgkb | rs140256288 |
| gwascentral | rs140256288 |
| openSNP | rs140256288 |
| 23andMe | rs140256288 |
| SNPshot | rs140256288 |
| SNPdbe | rs140256288 |
| MSV3d | rs140256288 |
| GWAS Ctlg | rs140256288 |
| Max Magnitude | 3 |
aka c.442G>T (p.Glu148Ter or E148X), and also c.442G>A; the former is considered pathogenic, the latter, likely to be benign.
| ClinVar | |
|---|---|
| Risk | rs140256288(A;A) rs140256288(T;T) |
| Alt | rs140256288(A;A) rs140256288(T;T) |
| Reference | Rs140256288(G;G) |
| Significance | Pathogenic |
| Disease | Retinal cone dystrophy 3B |
| Variation | info |
| Gene | KCNV2 |
| CLNDBN | Retinal cone dystrophy 3B |
| Reversed | 0 |
| HGVS | NC_000009.11:g.2718181G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000033032.2, |
