rs17420802
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs17420802(A;G) |
| Make rs17420802(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 5977709 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17420802 |
| dbSNP (classic) | rs17420802 |
| ClinGen | rs17420802 |
| ebi | rs17420802 |
| HLI | rs17420802 |
| Exac | rs17420802 |
| Gnomad | rs17420802 |
| Varsome | rs17420802 |
| LitVar | rs17420802 |
| Map | rs17420802 |
| PheGenI | rs17420802 |
| Biobank | rs17420802 |
| 1000 genomes | rs17420802 |
| hgdp | rs17420802 |
| ensembl | rs17420802 |
| geneview | rs17420802 |
| scholar | rs17420802 |
| rs17420802 | |
| pharmgkb | rs17420802 |
| gwascentral | rs17420802 |
| openSNP | rs17420802 |
| 23andMe | rs17420802 |
| SNPshot | rs17420802 |
| SNPdbe | rs17420802 |
| MSV3d | rs17420802 |
| GWAS Ctlg | rs17420802 |
| Merged from | Rs1059060 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs17420802(G;G) |
| Alt | rs17420802(G;G) |
| Reference | Rs17420802(A;A) |
| Significance | Non-pathogenic |
| Disease | Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome I |
| Variation | info |
| Gene | PMS2 |
| CLNDBN | Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome I |
| Reversed | 1 |
| HGVS | NC_000007.13:g.6017340T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000030368.4, RCV000079108.9, RCV000130364.2, RCV000144644.1, |
[PMID 17253] [Scientific basis for production of erythrocyte diagnosticums].
[PMID 10479499] Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability.
[PMID 14756672] Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.
[PMID 19526325] Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.
[PMID 20186688] Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
[PMID 20205264] Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
