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.