rs797045164
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs797045164(C;T) |
| Make rs797045164(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 240785063 |
| Gene | KIF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797045164 |
| dbSNP (classic) | rs797045164 |
| ClinGen | rs797045164 |
| ebi | rs797045164 |
| HLI | rs797045164 |
| Exac | rs797045164 |
| Gnomad | rs797045164 |
| Varsome | rs797045164 |
| LitVar | rs797045164 |
| Map | rs797045164 |
| PheGenI | rs797045164 |
| Biobank | rs797045164 |
| 1000 genomes | rs797045164 |
| hgdp | rs797045164 |
| ensembl | rs797045164 |
| geneview | rs797045164 |
| scholar | rs797045164 |
| rs797045164 | |
| pharmgkb | rs797045164 |
| gwascentral | rs797045164 |
| openSNP | rs797045164 |
| 23andMe | rs797045164 |
| SNPshot | rs797045164 |
| SNPdbe | rs797045164 |
| MSV3d | rs797045164 |
| GWAS Ctlg | rs797045164 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797045164(T;T) |
| Alt | rs797045164(T;T) |
| Reference | Rs797045164(C;C) |
| Significance | Pathogenic |
| Disease | Mental retardation PEHO syndrome |
| Variation | info |
| Gene | KIF1A |
| CLNDBN | Mental retardation, autosomal dominant 9 PEHO syndrome |
| Reversed | 1 |
| HGVS | NC_000002.11:g.241724480G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000191020.2, RCV000207243.1, |
