DNMT1, DNA methyltransferase 1, 1786

N. diseases: 496; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509391
rs397509391
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
A 0.820 CausalMutation CLINVAR
dbSNP: rs397509392
rs397509392
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
A 0.810 CausalMutation CLINVAR
dbSNP: rs397509393
rs397509393
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3807295
Disease:
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
G 0.810 CausalMutation CLINVAR
dbSNP: rs199473690
rs199473690
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie
C 0.800 GeneticVariation CLINVAR
dbSNP: rs199473690
rs199473690
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie
C 0.800 CausalMutation CLINVAR
dbSNP: rs869312750
rs869312750
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
0.800 GeneticVariation UNIPROT
dbSNP: rs1568234664
rs1568234664
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0025286
Disease:
Meningioma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs199473691
rs199473691
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie
TAT 0.700 CausalMutation CLINVAR
dbSNP: rs199473692
rs199473692
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3279885
Disease:
Hereditary Sensory and Autonomic Neuropathy Type Ie
G 0.700 CausalMutation CLINVAR
dbSNP: rs2228611
rs2228611
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE <i>DNMT1</i> rs2228611 may represent a determinant of radiation-induced fibrosis in breast cancer patients with promise for clinical usefulness in genetic-based predictive models. 27554481 2017
dbSNP: rs2228611
rs2228611
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE <i>DNMT1</i> rs2228611 may represent a determinant of radiation-induced fibrosis in breast cancer patients with promise for clinical usefulness in genetic-based predictive models. 27554481 2017
dbSNP: rs869312749
rs869312749
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
0.800 GeneticVariation UNIPROT Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 26805784 2016
dbSNP: rs869312749
rs869312749
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
G 0.800 CausalMutation CLINVAR Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 26805784 2016
dbSNP: rs869312750
rs869312750
Entrez Id: 1786;9294
Gene Symbol: DNMT1;S1PR2
DNMT1;S1PR2
CUI: C1835854
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 68
C 0.800 CausalMutation CLINVAR Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 26805784 2016
dbSNP: rs2228611
rs2228611
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0747845
Disease:
early pregnancy
0.010 GeneticVariation BEFREE Considering the growing evidence on the important roles of DNA methylation in gametogenesis and early pregnancy, we investigated the potential association of DNA methyltransferase gene polymorphisms (DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686) with RSA in Slovenian reproductive couples. 28940947 2017
dbSNP: rs16999593
rs16999593
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C3536741
Disease:
Discordant ventriculoarterial connection
0.010 GeneticVariation BEFREE DNA methyltransferase 1 rs16999593 genetic polymorphism decreases risk in patients with transposition of great arteries. 28323001 2017
dbSNP: rs2114724
rs2114724
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE DNMT1 rs2114724 (genotype P = .004, allele P = 0.022) and rs2228611 (genotype P = 0.004, allele P = 0.022) were found to be significantly associated at genotypic and allelic level with Schizophrenia in South Indian population. 24859147 2014
dbSNP: rs10418707
rs10418707
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE DNMT1 rs10418707 and rs10423341, and DNMT3A rs2289195 were found to be significantly associated at genotypic and allelic level with ASD. 30786140 2019
dbSNP: rs10423341
rs10423341
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE DNMT1 rs10418707 and rs10423341, and DNMT3A rs2289195 were found to be significantly associated at genotypic and allelic level with ASD. 30786140 2019
dbSNP: rs2228611
rs2228611
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE DNMT1 rs2114724 (genotype P = .004, allele P = 0.022) and rs2228611 (genotype P = 0.004, allele P = 0.022) were found to be significantly associated at genotypic and allelic level with Schizophrenia in South Indian population. 24859147 2014
dbSNP: rs16999358
rs16999358
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0040761
Disease:
Transposition of Great Vessels
0.010 GeneticVariation BEFREE Furthermore, logistic regression showed that sex and the rs16999358 SNP were two independent risk factors for complete TGA. 28323001 2017
dbSNP: rs78789647
rs78789647
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Furthermore, we showed that a DNMT1 SNP (rs78789647) was correlated with susceptibility to T2D. 26079428 2015
dbSNP: rs2288349
rs2288349
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE However, no significant association between the rs2288349 polymorphisms and the risk of CHD was observed (p > 0.05). 25596970 2015
dbSNP: rs11085721
rs11085721
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0442874
Disease:
Neuropathy
0.010 GeneticVariation BEFREE However, after sex stratification, the minor allele C of rs11085721 conferred risk for cardiovascular neuropathy in women after adjustment for confounding variables (odds ratio 2.32; 95% confidence interval 1.26-4.33; P = 0.006). 30548403 2019
dbSNP: rs2228612
rs2228612
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with dietary folate, methionine, vitamin B2 , and vitamin B12 intake and for MTRR I22M with dietary folate, a predefined one-carbon dietary pattern, and vitamin B6 intake. 22961839 2013