rs3812153
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (T;T) | 0 |
| Make rs3812153(A;G) |
| Make rs3812153(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 79916658 |
| Gene | ELOVL4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3812153 |
| dbSNP (classic) | rs3812153 |
| ClinGen | rs3812153 |
| ebi | rs3812153 |
| HLI | rs3812153 |
| Exac | rs3812153 |
| Gnomad | rs3812153 |
| Varsome | rs3812153 |
| LitVar | rs3812153 |
| Map | rs3812153 |
| PheGenI | rs3812153 |
| Biobank | rs3812153 |
| 1000 genomes | rs3812153 |
| hgdp | rs3812153 |
| ensembl | rs3812153 |
| geneview | rs3812153 |
| scholar | rs3812153 |
| rs3812153 | |
| pharmgkb | rs3812153 |
| gwascentral | rs3812153 |
| openSNP | rs3812153 |
| 23andMe | rs3812153 |
| SNPshot | rs3812153 |
| SNPdbe | rs3812153 |
| MSV3d | rs3812153 |
| GWAS Ctlg | rs3812153 |
| GMAF | 0.1864 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20388345] [Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population].
[PMID 22948568] Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration
| ClinVar | |
|---|---|
| Risk | rs3812153(G;G) |
| Alt | rs3812153(G;G) |
| Reference | Rs3812153(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Stargardt Disease |
| Variation | info |
| Gene | ELOVL4 |
| CLNDBN | not specified Stargardt Disease, Dominant |
| Reversed | 1 |
| HGVS | NC_000006.11:g.80626375T>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000153195.5, RCV000305578.1, |
