rs138068023
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common genotype |
| Make rs138068023(C;C) |
| Make rs138068023(C;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 47402967 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138068023 |
| dbSNP (classic) | rs138068023 |
| ClinGen | rs138068023 |
| ebi | rs138068023 |
| HLI | rs138068023 |
| Exac | rs138068023 |
| Gnomad | rs138068023 |
| Varsome | rs138068023 |
| LitVar | rs138068023 |
| Map | rs138068023 |
| PheGenI | rs138068023 |
| Biobank | rs138068023 |
| 1000 genomes | rs138068023 |
| hgdp | rs138068023 |
| ensembl | rs138068023 |
| geneview | rs138068023 |
| scholar | rs138068023 |
| rs138068023 | |
| pharmgkb | rs138068023 |
| gwascentral | rs138068023 |
| openSNP | rs138068023 |
| 23andMe | rs138068023 |
| SNPshot | rs138068023 |
| SNPdbe | rs138068023 |
| MSV3d | rs138068023 |
| GWAS Ctlg | rs138068023 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs138068023(C;C) |
| Alt | rs138068023(C;C) |
| Reference | Rs138068023(G;G) |
| Significance | Unknown |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47630106G>C |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000075983.2, RCV000165718.2, RCV000409105.1, |
