rs2228611
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs2228611(A;G) |
Make rs2228611(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 10156401 |
Gene | DNMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs2228611 |
dbSNP (classic) | rs2228611 |
ClinGen | rs2228611 |
ebi | rs2228611 |
HLI | rs2228611 |
Exac | rs2228611 |
Gnomad | rs2228611 |
Varsome | rs2228611 |
LitVar | rs2228611 |
Map | rs2228611 |
PheGenI | rs2228611 |
Biobank | rs2228611 |
1000 genomes | rs2228611 |
hgdp | rs2228611 |
ensembl | rs2228611 |
geneview | rs2228611 |
scholar | rs2228611 |
rs2228611 | |
pharmgkb | rs2228611 |
gwascentral | rs2228611 |
openSNP | rs2228611 |
23andMe | rs2228611 |
SNPshot | rs2228611 |
SNPdbe | rs2228611 |
MSV3d | rs2228611 |
GWAS Ctlg | rs2228611 |
GMAF | 0.4628 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 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 22382075] Low-level environmental cadmium exposure is associated with DNA hypomethylation in Argentinean women.
[PMID 23666104] DNMT1, DNMT3A and DNMT3B gene variants in relation to ovarian cancer risk in the Polish population
ClinVar | |
---|---|
Risk | rs2228611(G;G) |
Alt | rs2228611(G;G) |
Reference | Rs2228611(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.10267077T>C |
CLNSRC | |
CLNACC | RCV000245855.1, RCV000385434.1, |
[PMID 28323001] DNA methyltransferase 1 rs16999593 genetic polymorphism decreases risk in patients with transposition of great arteries.
[PMID 28414276] Studying the Association between Sudden Hearing Loss and DNA N-Methyltransferase 1 (DNMT1) Genetic Polymorphism.