rs797044465
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;G) | 3 | Possible miscall in Ancestry v2c data; otherwise, carrier of a Joubert syndrome mutation |
| (G;G) | 0 | common in clinvar |
| Make rs797044465(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 89652714 |
| Gene | KIF7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797044465 |
| dbSNP (classic) | rs797044465 |
| ClinGen | rs797044465 |
| ebi | rs797044465 |
| HLI | rs797044465 |
| Exac | rs797044465 |
| Gnomad | rs797044465 |
| Varsome | rs797044465 |
| LitVar | rs797044465 |
| Map | rs797044465 |
| PheGenI | rs797044465 |
| Biobank | rs797044465 |
| 1000 genomes | rs797044465 |
| hgdp | rs797044465 |
| ensembl | rs797044465 |
| geneview | rs797044465 |
| scholar | rs797044465 |
| rs797044465 | |
| pharmgkb | rs797044465 |
| gwascentral | rs797044465 |
| openSNP | rs797044465 |
| 23andMe | rs797044465 |
| SNPshot | rs797044465 |
| SNPdbe | rs797044465 |
| MSV3d | rs797044465 |
| GWAS Ctlg | rs797044465 |
| Max Magnitude | 3 |
aka c.217delG (p.Ala73Profs)
| ClinVar | |
|---|---|
| Risk | rs797044465(-;-) |
| Alt | rs797044465(-;-) |
| Reference | Rs797044465(G;G) |
| Significance | Pathogenic |
| Disease | Joubert syndrome 12 not provided |
| Variation | info |
| Gene | KIF7 |
| CLNDBN | Joubert syndrome 12 not provided |
| Reversed | 1 |
| HGVS | NC_000015.9:g.90195945delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023886.2, RCV000414144.1, |
