rs16999593
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs16999593(C;C) |
| Make rs16999593(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 10180505 |
| Gene | DNMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs16999593 |
| dbSNP (classic) | rs16999593 |
| ClinGen | rs16999593 |
| ebi | rs16999593 |
| HLI | rs16999593 |
| Exac | rs16999593 |
| Gnomad | rs16999593 |
| Varsome | rs16999593 |
| LitVar | rs16999593 |
| Map | rs16999593 |
| PheGenI | rs16999593 |
| Biobank | rs16999593 |
| 1000 genomes | rs16999593 |
| hgdp | rs16999593 |
| ensembl | rs16999593 |
| geneview | rs16999593 |
| scholar | rs16999593 |
| rs16999593 | |
| pharmgkb | rs16999593 |
| gwascentral | rs16999593 |
| openSNP | rs16999593 |
| 23andMe | rs16999593 |
| SNPshot | rs16999593 |
| SNPdbe | rs16999593 |
| MSV3d | rs16999593 |
| GWAS Ctlg | rs16999593 |
| GMAF | 0.05877 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20920981] Association of DNMT1 Gene Polymorphisms in Exons With Sporadic Infiltrating Ductal Breast Carcinoma Among Chinese Han Women in the Heilongjiang Province
[PMID 23049933
] Polymorphisms of the DNA methyltransferase 1 associated with reduced risks of Helicobacter pylori infection and increased risks of gastric atrophy
[PMID 23771421] Lack of association between DNMT1 gene polymorphisms and noise-induced hearing loss in a Chinese population
[PMID 24630008] [Association between SNPs in DNMT1 and noise-induced hearing loss in Chinese Han population]
| ClinVar | |
|---|---|
| Risk | rs16999593(C;C) |
| Alt | rs16999593(C;C) |
| Reference | Rs16999593(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Dementia |
| Variation | info |
| Gene | DNMT1 |
| CLNDBN | not specified Dementia, Deafness, and Sensory Neuropathy |
| Reversed | 0 |
| HGVS | NC_000019.9:g.10291181T>C |
| CLNSRC | |
| CLNACC | RCV000246863.2, RCV000284312.1, |
[PMID 28323001] DNA methyltransferase 1 rs16999593 genetic polymorphism decreases risk in patients with transposition of great arteries.
