rs797045865
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AG;AG) | 0 | common in clinvar |
| Make rs797045865(-;-) |
| Make rs797045865(-;AG) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 2674090 |
| Gene | PAFAH1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797045865 |
| dbSNP (classic) | rs797045865 |
| ClinGen | rs797045865 |
| ebi | rs797045865 |
| HLI | rs797045865 |
| Exac | rs797045865 |
| Gnomad | rs797045865 |
| Varsome | rs797045865 |
| LitVar | rs797045865 |
| Map | rs797045865 |
| PheGenI | rs797045865 |
| Biobank | rs797045865 |
| 1000 genomes | rs797045865 |
| hgdp | rs797045865 |
| ensembl | rs797045865 |
| geneview | rs797045865 |
| scholar | rs797045865 |
| rs797045865 | |
| pharmgkb | rs797045865 |
| gwascentral | rs797045865 |
| openSNP | rs797045865 |
| 23andMe | rs797045865 |
| SNPshot | rs797045865 |
| SNPdbe | rs797045865 |
| MSV3d | rs797045865 |
| GWAS Ctlg | rs797045865 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797045865(-;-) |
| Alt | rs797045865(-;-) |
| Reference | Rs797045865(AG;AG) |
| Significance | Pathogenic |
| Disease | Lissencephaly 1 |
| Variation | info |
| Gene | PAFAH1B1 |
| CLNDBN | Lissencephaly 1 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.2577384_2577385delAG |
| CLNSRC | |
| CLNACC | RCV000192866.1, |
