rs727502854
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs727502854(-;A) |
| Make rs727502854(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 131518949 |
| Gene | LOC105376301, POMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727502854 |
| dbSNP (classic) | rs727502854 |
| ClinGen | rs727502854 |
| ebi | rs727502854 |
| HLI | rs727502854 |
| Exac | rs727502854 |
| Gnomad | rs727502854 |
| Varsome | rs727502854 |
| LitVar | rs727502854 |
| Map | rs727502854 |
| PheGenI | rs727502854 |
| Biobank | rs727502854 |
| 1000 genomes | rs727502854 |
| hgdp | rs727502854 |
| ensembl | rs727502854 |
| geneview | rs727502854 |
| scholar | rs727502854 |
| rs727502854 | |
| pharmgkb | rs727502854 |
| gwascentral | rs727502854 |
| openSNP | rs727502854 |
| 23andMe | rs727502854 |
| SNPshot | rs727502854 |
| SNPdbe | rs727502854 |
| MSV3d | rs727502854 |
| GWAS Ctlg | rs727502854 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727502854(A;A) |
| Alt | rs727502854(A;A) |
| Reference | Rs727502854(-;-) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | POMT1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.134394336dupA |
| CLNSRC | |
| CLNACC | RCV000150017.2, |
