rs150418024
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs150418024(C;G) |
| Make rs150418024(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 4 |
| Position | 127921956 |
| Gene | MFSD8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150418024 |
| dbSNP (classic) | rs150418024 |
| ClinGen | rs150418024 |
| ebi | rs150418024 |
| HLI | rs150418024 |
| Exac | rs150418024 |
| Gnomad | rs150418024 |
| Varsome | rs150418024 |
| LitVar | rs150418024 |
| Map | rs150418024 |
| PheGenI | rs150418024 |
| Biobank | rs150418024 |
| 1000 genomes | rs150418024 |
| hgdp | rs150418024 |
| ensembl | rs150418024 |
| geneview | rs150418024 |
| scholar | rs150418024 |
| rs150418024 | |
| pharmgkb | rs150418024 |
| gwascentral | rs150418024 |
| openSNP | rs150418024 |
| 23andMe | rs150418024 |
| SNPshot | rs150418024 |
| SNPdbe | rs150418024 |
| MSV3d | rs150418024 |
| GWAS Ctlg | rs150418024 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs150418024(G;G) rs150418024(T;T) |
| Alt | rs150418024(G;G) rs150418024(T;T) |
| Reference | Rs150418024(C;C) |
| Significance | Pathogenic |
| Disease | Macular dystrophy with central cone involvement not specified |
| Variation | info |
| Gene | MFSD8 |
| CLNDBN | Macular dystrophy with central cone involvement not specified |
| Reversed | 0 |
| HGVS | NC_000004.11:g.128843111C>G; NC_000004.11:g.128843111C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000149771.3, RCV000188179.3, RCV000334238.1, |
