rs375398247
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs375398247(A;G) |
| Make rs375398247(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 133353951 |
| Gene | SURF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375398247 |
| dbSNP (classic) | rs375398247 |
| ClinGen | rs375398247 |
| ebi | rs375398247 |
| HLI | rs375398247 |
| Exac | rs375398247 |
| Gnomad | rs375398247 |
| Varsome | rs375398247 |
| LitVar | rs375398247 |
| Map | rs375398247 |
| PheGenI | rs375398247 |
| Biobank | rs375398247 |
| 1000 genomes | rs375398247 |
| hgdp | rs375398247 |
| ensembl | rs375398247 |
| geneview | rs375398247 |
| scholar | rs375398247 |
| rs375398247 | |
| pharmgkb | rs375398247 |
| gwascentral | rs375398247 |
| openSNP | rs375398247 |
| 23andMe | rs375398247 |
| SNPshot | rs375398247 |
| SNPdbe | rs375398247 |
| MSV3d | rs375398247 |
| GWAS Ctlg | rs375398247 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375398247(C;C) rs375398247(G;G) |
| Alt | rs375398247(C;C) rs375398247(G;G) |
| Reference | Rs375398247(A;A) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SURF1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136220806A>C |
| CLNSRC | |
| CLNACC | RCV000198496.2, |
