rs2228612
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2228612(A;G) |
| Make rs2228612(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 10162696 |
| Gene | DNMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228612 |
| dbSNP (classic) | rs2228612 |
| ClinGen | rs2228612 |
| ebi | rs2228612 |
| HLI | rs2228612 |
| Exac | rs2228612 |
| Gnomad | rs2228612 |
| Varsome | rs2228612 |
| LitVar | rs2228612 |
| Map | rs2228612 |
| PheGenI | rs2228612 |
| Biobank | rs2228612 |
| 1000 genomes | rs2228612 |
| hgdp | rs2228612 |
| ensembl | rs2228612 |
| geneview | rs2228612 |
| scholar | rs2228612 |
| rs2228612 | |
| pharmgkb | rs2228612 |
| gwascentral | rs2228612 |
| openSNP | rs2228612 |
| 23andMe | rs2228612 |
| SNPshot | rs2228612 |
| SNPdbe | rs2228612 |
| MSV3d | rs2228612 |
| GWAS Ctlg | rs2228612 |
| Merged from | Rs8111085 |
| GMAF | 0.185 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23638630
] DNMT1 genetic polymorphisms affect breast cancer risk in the central European Caucasian population
[PMID 23771421] Lack of association between DNMT1 gene polymorphisms and noise-induced hearing loss in a Chinese population
[PMID 18499700
] Haplotypes of DNMT1 and DNMT3B are associated with mutagen sensitivity induced by benzo[a]pyrene diol epoxide among smokers.
| ClinVar | |
|---|---|
| Risk | rs2228612(C;C) rs2228612(G;G) rs2228612(T;T) |
| Alt | rs2228612(C;C) rs2228612(G;G) rs2228612(T;T) |
| Reference | Rs2228612(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Dementia |
| Variation | info |
| Gene | DNMT1 |
| CLNDBN | not specified Dementia, Deafness, and Sensory Neuropathy |
| Reversed | 1 |
| HGVS | NC_000019.9:g.10273372T>C |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000124762.3, RCV000339574.1, |
[PMID 24630008] [Association between SNPs in DNMT1 and noise-induced hearing loss in Chinese Han population]
[PMID 28414276] Studying the Association between Sudden Hearing Loss and DNA N-Methyltransferase 1 (DNMT1) Genetic Polymorphism.
