rs193922343
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;AAGAA) | 6 | Lynch syndrome |
| (-;AGAA) | 6 | Lynch syndrome, pathogenic mutation |
| (AAAG;AAAG) | 0 | common in clinvar |
| (AGAA;AGAA) | 0 | common in clinvar |
| Make rs193922343(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47806256 |
| Gene | MSH6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922343 |
| dbSNP (classic) | rs193922343 |
| ClinGen | rs193922343 |
| ebi | rs193922343 |
| HLI | rs193922343 |
| Exac | rs193922343 |
| Gnomad | rs193922343 |
| Varsome | rs193922343 |
| LitVar | rs193922343 |
| Map | rs193922343 |
| PheGenI | rs193922343 |
| Biobank | rs193922343 |
| 1000 genomes | rs193922343 |
| hgdp | rs193922343 |
| ensembl | rs193922343 |
| geneview | rs193922343 |
| scholar | rs193922343 |
| rs193922343 | |
| pharmgkb | rs193922343 |
| gwascentral | rs193922343 |
| openSNP | rs193922343 |
| 23andMe | rs193922343 |
| SNPshot | rs193922343 |
| SNPdbe | rs193922343 |
| MSV3d | rs193922343 |
| GWAS Ctlg | rs193922343 |
| Max Magnitude | 6 |
c.3699_3702delAGAA (p.Lys1233Asnfs); rs267608115 is functionally equivalent to rs193922343 and has been merged into it in dbSNP, but for frequency lookup in ExAc or gnomAD, use rs267608115.
23andMe name: i5037895
| ClinVar | |
|---|---|
| Risk | rs193922343(-;-) Rs193922343(AAAG;AAAG) |
| Alt | rs193922343(-;-) Rs193922343(AAAG;AAAG) |
| Reference | Rs193922343(AGAA;AGAA) |
| Significance | Pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | MSH6 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.48033395_48033398delAGAA |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000030271.3, RCV000128914.4, RCV000202074.3, |
