rs757481230
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs757481230(A;A) |
| Make rs757481230(A;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 50169121 |
| Gene | SGCA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757481230 |
| dbSNP (classic) | rs757481230 |
| ClinGen | rs757481230 |
| ebi | rs757481230 |
| HLI | rs757481230 |
| Exac | rs757481230 |
| Gnomad | rs757481230 |
| Varsome | rs757481230 |
| LitVar | rs757481230 |
| Map | rs757481230 |
| PheGenI | rs757481230 |
| Biobank | rs757481230 |
| 1000 genomes | rs757481230 |
| hgdp | rs757481230 |
| ensembl | rs757481230 |
| geneview | rs757481230 |
| scholar | rs757481230 |
| rs757481230 | |
| pharmgkb | rs757481230 |
| gwascentral | rs757481230 |
| openSNP | rs757481230 |
| 23andMe | rs757481230 |
| SNPshot | rs757481230 |
| SNPdbe | rs757481230 |
| MSV3d | rs757481230 |
| GWAS Ctlg | rs757481230 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs757481230(A;A) rs757481230(T;T) |
| Alt | rs757481230(A;A) rs757481230(T;T) |
| Reference | Rs757481230(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified not provided |
| Variation | info |
| Gene | SGCA |
| CLNDBN | not specified not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.48246482C>A; NC_000017.10:g.48246482C>T |
| CLNSRC | |
| CLNACC | RCV000375203.1, RCV000442753.1, RCV000478809.1, |
