rs78931658
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs78931658(C;G) |
| Make rs78931658(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 100892640 |
| Gene | ALDH1A3, LOC101927751 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78931658 |
| dbSNP (classic) | rs78931658 |
| ClinGen | rs78931658 |
| ebi | rs78931658 |
| HLI | rs78931658 |
| Exac | rs78931658 |
| Gnomad | rs78931658 |
| Varsome | rs78931658 |
| LitVar | rs78931658 |
| Map | rs78931658 |
| PheGenI | rs78931658 |
| Biobank | rs78931658 |
| 1000 genomes | rs78931658 |
| hgdp | rs78931658 |
| ensembl | rs78931658 |
| geneview | rs78931658 |
| scholar | rs78931658 |
| rs78931658 | |
| pharmgkb | rs78931658 |
| gwascentral | rs78931658 |
| openSNP | rs78931658 |
| 23andMe | rs78931658 |
| SNPshot | rs78931658 |
| SNPdbe | rs78931658 |
| MSV3d | rs78931658 |
| GWAS Ctlg | rs78931658 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78931658(A;A) rs78931658(G;G) rs78931658(T;T) |
| Alt | rs78931658(A;A) rs78931658(G;G) rs78931658(T;T) |
| Reference | Rs78931658(C;C) |
| Significance | Pathogenic |
| Disease | Microphthalmia |
| Variation | info |
| Gene | LOC101927751 ALDH1A3 |
| CLNDBN | Microphthalmia, isolated 8 |
| Reversed | 1 |
| HGVS | NC_000015.9:g.101432845G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000033223.5, |
