rs749963147
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| Make rs749963147(-;CCGG) |
| Make rs749963147(CCGG;CCGG) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 5 |
| Position | 149027931 |
| Gene | SH3TC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749963147 |
| dbSNP (classic) | rs749963147 |
| ClinGen | rs749963147 |
| ebi | rs749963147 |
| HLI | rs749963147 |
| Exac | rs749963147 |
| Gnomad | rs749963147 |
| Varsome | rs749963147 |
| LitVar | rs749963147 |
| Map | rs749963147 |
| PheGenI | rs749963147 |
| Biobank | rs749963147 |
| 1000 genomes | rs749963147 |
| hgdp | rs749963147 |
| ensembl | rs749963147 |
| geneview | rs749963147 |
| scholar | rs749963147 |
| rs749963147 | |
| pharmgkb | rs749963147 |
| gwascentral | rs749963147 |
| openSNP | rs749963147 |
| 23andMe | rs749963147 |
| SNPshot | rs749963147 |
| SNPdbe | rs749963147 |
| MSV3d | rs749963147 |
| GWAS Ctlg | rs749963147 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749963147(GGCC;GGCC) |
| Alt | rs749963147(GGCC;GGCC) |
| Reference | Rs749963147(-;-) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SH3TC2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.148407495_148407498dupGGCC |
| CLNSRC | |
| CLNACC | RCV000235976.1, |
