rs1572983
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1572983(C;T) |
| Make rs1572983(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 101371346 |
| Gene | BAAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1572983 |
| dbSNP (classic) | rs1572983 |
| ClinGen | rs1572983 |
| ebi | rs1572983 |
| HLI | rs1572983 |
| Exac | rs1572983 |
| Gnomad | rs1572983 |
| Varsome | rs1572983 |
| LitVar | rs1572983 |
| Map | rs1572983 |
| PheGenI | rs1572983 |
| Biobank | rs1572983 |
| 1000 genomes | rs1572983 |
| hgdp | rs1572983 |
| ensembl | rs1572983 |
| geneview | rs1572983 |
| scholar | rs1572983 |
| rs1572983 | |
| pharmgkb | rs1572983 |
| gwascentral | rs1572983 |
| openSNP | rs1572983 |
| 23andMe | rs1572983 |
| SNPshot | rs1572983 |
| SNPdbe | rs1572983 |
| MSV3d | rs1572983 |
| GWAS Ctlg | rs1572983 |
| GMAF | 0.3829 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 17495420] Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.
| ClinVar | |
|---|---|
| Risk | rs1572983(T;T) |
| Alt | rs1572983(T;T) |
| Reference | Rs1572983(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Hypercholanemia |
| Variation | info |
| Gene | BAAT |
| CLNDBN | not specified Hypercholanemia |
| Reversed | 0 |
| HGVS | NC_000009.11:g.104133628C>T |
| CLNSRC | |
| CLNACC | RCV000246129.1, RCV000379275.1, |
