rs267608099
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (-;AGTG) | 6 | Lynch syndrome, pathogenic mutation | 
| (AGTG;AGTG) | 0 | common in clinvar | 
| (GAGT;GAGT) | 0 | common in clinvar | 
| Make rs267608099(-;-) | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 2 | 
| Position | 47804987 | 
| Gene | MSH6 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs267608099 | 
| dbSNP (classic) | rs267608099 | 
| ClinGen | rs267608099 | 
| ebi | rs267608099 | 
| HLI | rs267608099 | 
| Exac | rs267608099 | 
| Gnomad | rs267608099 | 
| Varsome | rs267608099 | 
| LitVar | rs267608099 | 
| Map | rs267608099 | 
| PheGenI | rs267608099 | 
| Biobank | rs267608099 | 
| 1000 genomes | rs267608099 | 
| hgdp | rs267608099 | 
| ensembl | rs267608099 | 
| geneview | rs267608099 | 
| scholar | rs267608099 | 
| rs267608099 | |
| pharmgkb | rs267608099 | 
| gwascentral | rs267608099 | 
| openSNP | rs267608099 | 
| 23andMe | rs267608099 | 
| SNPshot | rs267608099 | 
| SNPdbe | rs267608099 | 
| MSV3d | rs267608099 | 
| GWAS Ctlg | rs267608099 | 
| Max Magnitude | 6 | 
c.3516_3519delAGTG (p.Arg1172Serfs)
23andMe name: i5037859
| ClinVar | |
|---|---|
| Risk | rs267608099(-;-) | 
| Alt | rs267608099(-;-) | 
| Reference | Rs267608099(GAGT;GAGT) | 
| Significance | Pathogenic | 
| Disease | Lynch syndrome | 
| Variation | info | 
| Gene | MSH6 | 
| CLNDBN | Lynch syndrome | 
| Reversed | 0 | 
| HGVS | NC_000002.11:g.48032126_48032129delAGTG | 
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours | 
| CLNACC | RCV000074873.2, | 


