rs142331975
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs142331975(A;A) |
| Make rs142331975(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 18 |
| Position | 31089462 |
| Gene | DSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142331975 |
| dbSNP (classic) | rs142331975 |
| ClinGen | rs142331975 |
| ebi | rs142331975 |
| HLI | rs142331975 |
| Exac | rs142331975 |
| Gnomad | rs142331975 |
| Varsome | rs142331975 |
| LitVar | rs142331975 |
| Map | rs142331975 |
| PheGenI | rs142331975 |
| Biobank | rs142331975 |
| 1000 genomes | rs142331975 |
| hgdp | rs142331975 |
| ensembl | rs142331975 |
| geneview | rs142331975 |
| scholar | rs142331975 |
| rs142331975 | |
| pharmgkb | rs142331975 |
| gwascentral | rs142331975 |
| openSNP | rs142331975 |
| 23andMe | rs142331975 |
| SNPshot | rs142331975 |
| SNPdbe | rs142331975 |
| MSV3d | rs142331975 |
| GWAS Ctlg | rs142331975 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142331975(A;A) |
| Alt | rs142331975(A;A) |
| Reference | Rs142331975(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | DSC2 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000018.9:g.28669425G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000155026.2, |
