rs146064714
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of an apolipoproteinemia variant |
| (T;T) | 6 | Apolipoproteinemia (predicted) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 99622756 |
| Gene | MTTP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146064714 |
| dbSNP (classic) | rs146064714 |
| ClinGen | rs146064714 |
| ebi | rs146064714 |
| HLI | rs146064714 |
| Exac | rs146064714 |
| Gnomad | rs146064714 |
| Varsome | rs146064714 |
| LitVar | rs146064714 |
| Map | rs146064714 |
| PheGenI | rs146064714 |
| Biobank | rs146064714 |
| 1000 genomes | rs146064714 |
| hgdp | rs146064714 |
| ensembl | rs146064714 |
| geneview | rs146064714 |
| scholar | rs146064714 |
| rs146064714 | |
| pharmgkb | rs146064714 |
| gwascentral | rs146064714 |
| openSNP | rs146064714 |
| 23andMe | rs146064714 |
| SNPshot | rs146064714 |
| SNPdbe | rs146064714 |
| MSV3d | rs146064714 |
| GWAS Ctlg | rs146064714 |
| Max Magnitude | 6 |
aka c.2593G>T, p.Gly865Ter and G865X
With a carrier frequency of 1 in 131 among Ashkenazi Jews, the recessively inherited rs146064714(T) variant is the basis of an incidence rate for abetalipoproteinemia of about 1 in 70,000 in this population. It is at least 10 fold rarer in other populations.[PMID 17275380]
| ClinVar | |
|---|---|
| Risk | Rs146064714(T;T) |
| Alt | Rs146064714(T;T) |
| Reference | Rs146064714(G;G) |
| Significance | Pathogenic |
| Disease | Abetalipoproteinaemia |
| Variation | info |
| Gene | MTTP |
| CLNDBN | Abetalipoproteinaemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.100543913G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015311.21, |
