rs749718096
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs749718096(C;T) |
| Make rs749718096(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 240775862 |
| Gene | KIF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749718096 |
| dbSNP (classic) | rs749718096 |
| ClinGen | rs749718096 |
| ebi | rs749718096 |
| HLI | rs749718096 |
| Exac | rs749718096 |
| Gnomad | rs749718096 |
| Varsome | rs749718096 |
| LitVar | rs749718096 |
| Map | rs749718096 |
| PheGenI | rs749718096 |
| Biobank | rs749718096 |
| 1000 genomes | rs749718096 |
| hgdp | rs749718096 |
| ensembl | rs749718096 |
| geneview | rs749718096 |
| scholar | rs749718096 |
| rs749718096 | |
| pharmgkb | rs749718096 |
| gwascentral | rs749718096 |
| openSNP | rs749718096 |
| 23andMe | rs749718096 |
| SNPshot | rs749718096 |
| SNPdbe | rs749718096 |
| MSV3d | rs749718096 |
| GWAS Ctlg | rs749718096 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749718096(A;A) rs749718096(T;T) |
| Alt | rs749718096(A;A) rs749718096(T;T) |
| Reference | Rs749718096(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | KIF1A |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.241715279C>T |
| CLNSRC | |
| CLNACC | RCV000414618.1, |
