rs119480070
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs119480070(G;T) |
| Make rs119480070(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 43837870 |
| Gene | ABCG5, ABCG8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119480070 |
| dbSNP (classic) | rs119480070 |
| ClinGen | rs119480070 |
| ebi | rs119480070 |
| HLI | rs119480070 |
| Exac | rs119480070 |
| Gnomad | rs119480070 |
| Varsome | rs119480070 |
| LitVar | rs119480070 |
| Map | rs119480070 |
| PheGenI | rs119480070 |
| Biobank | rs119480070 |
| 1000 genomes | rs119480070 |
| hgdp | rs119480070 |
| ensembl | rs119480070 |
| geneview | rs119480070 |
| scholar | rs119480070 |
| rs119480070 | |
| pharmgkb | rs119480070 |
| gwascentral | rs119480070 |
| openSNP | rs119480070 |
| 23andMe | rs119480070 |
| SNPshot | rs119480070 |
| SNPdbe | rs119480070 |
| MSV3d | rs119480070 |
| GWAS Ctlg | rs119480070 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119480070(T;T) |
| Alt | rs119480070(T;T) |
| Reference | Rs119480070(G;G) |
| Significance | Pathogenic |
| Disease | Sitosterolemia |
| Variation | info |
| Gene | ABCG5 ABCG8 |
| CLNDBN | Sitosterolemia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.44065009C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005269.3, |
