rs1057518960
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1057518960(C;C) |
| Make rs1057518960(C;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 121447333 |
| Gene | GJA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057518960 |
| dbSNP (classic) | rs1057518960 |
| ClinGen | rs1057518960 |
| ebi | rs1057518960 |
| HLI | rs1057518960 |
| Exac | rs1057518960 |
| Gnomad | rs1057518960 |
| Varsome | rs1057518960 |
| LitVar | rs1057518960 |
| Map | rs1057518960 |
| PheGenI | rs1057518960 |
| Biobank | rs1057518960 |
| 1000 genomes | rs1057518960 |
| hgdp | rs1057518960 |
| ensembl | rs1057518960 |
| geneview | rs1057518960 |
| scholar | rs1057518960 |
| rs1057518960 | |
| pharmgkb | rs1057518960 |
| gwascentral | rs1057518960 |
| openSNP | rs1057518960 |
| 23andMe | rs1057518960 |
| SNPshot | rs1057518960 |
| SNPdbe | rs1057518960 |
| MSV3d | rs1057518960 |
| GWAS Ctlg | rs1057518960 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1057518960(C;C) |
| Alt | rs1057518960(C;C) |
| Reference | Rs1057518960(G;G) |
| Significance | Probable-Pathogenic |
| Disease | 4-5 finger syndactyly Cleft upper lip Edema of the dorsum of feet Finger syndactyly Narrow nasal bridge Sparse hair Underdeveloped nasal alae |
| Variation | info |
| Gene | GJA1 |
| CLNDBN | 4-5 finger syndactyly Cleft upper lip Edema of the dorsum of feet Finger syndactyly Narrow nasal bridge Sparse hair Underdeveloped nasal alae |
| Reversed | 0 |
| HGVS | NC_000006.11:g.121768479G>C |
| CLNSRC | |
| CLNACC | RCV000414964.1, |
