rs28756990
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs28756990(G;T) |
| Make rs28756990(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 14 |
| Position | 75047435 |
| Gene | MLH3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28756990 |
| dbSNP (classic) | rs28756990 |
| ClinGen | rs28756990 |
| ebi | rs28756990 |
| HLI | rs28756990 |
| Exac | rs28756990 |
| Gnomad | rs28756990 |
| Varsome | rs28756990 |
| LitVar | rs28756990 |
| Map | rs28756990 |
| PheGenI | rs28756990 |
| Biobank | rs28756990 |
| 1000 genomes | rs28756990 |
| hgdp | rs28756990 |
| ensembl | rs28756990 |
| geneview | rs28756990 |
| scholar | rs28756990 |
| rs28756990 | |
| pharmgkb | rs28756990 |
| gwascentral | rs28756990 |
| openSNP | rs28756990 |
| 23andMe | rs28756990 |
| SNPshot | rs28756990 |
| SNPdbe | rs28756990 |
| MSV3d | rs28756990 |
| GWAS Ctlg | rs28756990 |
| GMAF | 0.01653 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs28756990(A;A) rs28756990(T;T) |
| Alt | rs28756990(A;A) rs28756990(T;T) |
| Reference | Rs28756990(G;G) |
| Significance | Pathogenic |
| Disease | Endometrial carcinoma Hereditary nonpolyposis colorectal cancer type 7 Lynch syndrome MLH3-Related Lynch Syndrome |
| Variation | info |
| Gene | MLH3 |
| CLNDBN | Endometrial carcinoma Hereditary nonpolyposis colorectal cancer type 7 Lynch syndrome MLH3-Related Lynch Syndrome |
| Reversed | 1 |
| HGVS | NC_000014.8:g.75514138C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005900.2, RCV000005901.2, RCV000287505.1, RCV000476183.1, |
