rs569808959
From SNPedia
| Merged into | rs80338720 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CATA;CATA) | 0 | common in clinvar |
| Make rs569808959(-;-) |
| Make rs569808959(-;CATA) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 96189372 |
| Gene | SLC25A13 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs569808959 |
| dbSNP (classic) | rs569808959 |
| ClinGen | rs569808959 |
| ebi | rs569808959 |
| HLI | rs569808959 |
| Exac | rs569808959 |
| Gnomad | rs569808959 |
| Varsome | rs569808959 |
| LitVar | rs569808959 |
| Map | rs569808959 |
| PheGenI | rs569808959 |
| Biobank | rs569808959 |
| 1000 genomes | rs569808959 |
| hgdp | rs569808959 |
| ensembl | rs569808959 |
| geneview | rs569808959 |
| scholar | rs569808959 |
| rs569808959 | |
| pharmgkb | rs569808959 |
| gwascentral | rs569808959 |
| openSNP | rs569808959 |
| 23andMe | rs569808959 |
| SNPshot | rs569808959 |
| SNPdbe | rs569808959 |
| MSV3d | rs569808959 |
| GWAS Ctlg | rs569808959 |
| Status | Merged into rs80338720 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs569808959(CATA;CATA) |
| Significance | Pathogenic |
| Disease | Neonatal intrahepatic cholestasis caused by citrin deficiency |
| Variation | info |
| Gene | SLC25A13 |
| CLNDBN | Neonatal intrahepatic cholestasis caused by citrin deficiency |
| Reversed | 0 |
| HGVS | NC_000007.13:g.95818684_95818687delCATA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006368.3, |
