rs1599988
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1599988(C;C) |
| Make rs1599988(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 4216 |
| Gene | ND1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1599988 |
| dbSNP (classic) | rs1599988 |
| ClinGen | rs1599988 |
| ebi | rs1599988 |
| HLI | rs1599988 |
| Exac | rs1599988 |
| Gnomad | rs1599988 |
| Varsome | rs1599988 |
| LitVar | rs1599988 |
| Map | rs1599988 |
| PheGenI | rs1599988 |
| Biobank | rs1599988 |
| 1000 genomes | rs1599988 |
| hgdp | rs1599988 |
| ensembl | rs1599988 |
| geneview | rs1599988 |
| scholar | rs1599988 |
| rs1599988 | |
| pharmgkb | rs1599988 |
| gwascentral | rs1599988 |
| openSNP | rs1599988 |
| 23andMe | rs1599988 |
| SNPshot | rs1599988 |
| SNPdbe | rs1599988 |
| MSV3d | rs1599988 |
| GWAS Ctlg | rs1599988 |
| GMAF | 0.07297 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1599988(C;C) |
| Alt | rs1599988(C;C) |
| Reference | Rs1599988(T;T) |
| Significance | Other |
| Disease | Leber's optic atrophy |
| Variation | info |
| Gene | ND1 |
| CLNDBN | Leber's optic atrophy |
| Reversed | 0 |
| HGVS | NC_012920.1:m.4216T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010373.6, |
