rs757704417
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AC;AC) | 0 | common in clinvar |
| Make rs757704417(-;-) |
| Make rs757704417(-;AC) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 24357627 |
| Gene | DCDC2, KAAG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757704417 |
| dbSNP (classic) | rs757704417 |
| ClinGen | rs757704417 |
| ebi | rs757704417 |
| HLI | rs757704417 |
| Exac | rs757704417 |
| Gnomad | rs757704417 |
| Varsome | rs757704417 |
| LitVar | rs757704417 |
| Map | rs757704417 |
| PheGenI | rs757704417 |
| Biobank | rs757704417 |
| 1000 genomes | rs757704417 |
| hgdp | rs757704417 |
| ensembl | rs757704417 |
| geneview | rs757704417 |
| scholar | rs757704417 |
| rs757704417 | |
| pharmgkb | rs757704417 |
| gwascentral | rs757704417 |
| openSNP | rs757704417 |
| 23andMe | rs757704417 |
| SNPshot | rs757704417 |
| SNPdbe | rs757704417 |
| MSV3d | rs757704417 |
| GWAS Ctlg | rs757704417 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs757704417(-;-) |
| Alt | rs757704417(-;-) |
| Reference | Rs757704417(AC;AC) |
| Significance | Pathogenic |
| Disease | Nephronophthisis 19 Sclerosing cholangitis |
| Variation | info |
| Gene | KAAG1 DCDC2 |
| CLNDBN | Nephronophthisis 19 Sclerosing cholangitis, neonatal |
| Reversed | 0 |
| HGVS | NC_000006.11:g.24357855_24357856delAC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000157643.4, RCV000477717.1, |
