chr1:11794419:T>G Detail (hg38) (MTHFR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,854,476-11,854,476 View the variant detail on this assembly version. |
hg38 | chr1:11,794,419-11,794,419 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005957.4:c.1286A>C | NP_005948.3:p.Glu429Ala |
Ensemble | ENST00000376583.7:c.1409A>C | ENST00000376583.7:p.Glu470Ala |
ENST00000376585.6:c.1409A>C | ENST00000376585.6:p.Glu470Ala |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.202 |
ToMMo:0.197 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.215 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2008-07-01 | no assertion criteria provided | MTHFR THERMOLABILE POLYMORPHISM |
![]() |
Detail |
![]() |
2008-07-01 | no assertion criteria provided | Schizophrenia, susceptibility to |
![]() |
Detail |
no classifications from unflagged records | 2023-10-30 | no classifications from unflagged records | gastrointestinal stromal tumor |
![]() |
Detail |
Benign; other | 2023-11-29 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
Detail |
![]() |
2019-05-28 | criteria provided, single submitter | Neural tube defects, folate-sensitive |
![]() |
Detail |
![]() |
2023-09-07 | criteria provided, single submitter | not specified |
![]() |
Detail |
![]() |
2024-03-25 | criteria provided, multiple submitters, no conflicts | Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
![]() ![]() |
Detail |
![]() |
2023-12-01 | criteria provided, single submitter | MTHFR-related disorder |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | diffuse large B-cell lymphoma | The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... | BeFree | 23829278 | Detail |
0.013 | diffuse large B-cell lymphoma | The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... | BeFree | 23829278 | Detail |
0.107 | colorectal cancer | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8... | BeFree | 18992148 | Detail |
0.026 | colorectal cancer | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8... | BeFree | 18992148 | Detail |
0.011 | colorectal cancer | Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8... | BeFree | 18992148 | Detail |
0.003 | stomach carcinoma | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
0.003 | Malignant neoplasm of esophagus | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
0.007 | Malignant neoplasm of stomach | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
0.127 | Esophageal Neoplasms | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
<0.001 | esophageal carcinoma | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
0.204 | rheumatoid arthritis | In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... | BeFree | 22927710 | Detail |
0.032 | rheumatoid arthritis | In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... | BeFree | 22927710 | Detail |
0.425 | rheumatoid arthritis | In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... | BeFree | 22927710 | Detail |
0.360 | rheumatoid arthritis | In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... | BeFree | 22927710 | Detail |
<0.001 | Endothelial dysfunction | In this regard, besides a strong association between the HLA-DRB1∗04 shared epit... | BeFree | 22927710 | Detail |
0.190 | Alzheimer's disease | In this case-control study, we examined C677T and A1298C (rs1801133 and rs180113... | BeFree | 22015309 | Detail |
0.006 | Down syndrome | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), ... | BeFree | 15889417 | Detail |
0.115 | Hypertensive disease | Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overwei... | BeFree | 24959828 | Detail |
0.016 | colorectal cancer | MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis i... | BeFree | 23626689 | Detail |
0.094 | Diabetes Mellitus, Non-Insulin-Dependent | MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high... | BeFree | 25074646 | Detail |
0.033 | Esophageal Neoplasms | Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... | BeFree | 21347786 | Detail |
0.042 | Malignant neoplasm of esophagus | Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... | BeFree | 21347786 | Detail |
0.107 | colorectal cancer | MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis i... | BeFree | 23626689 | Detail |
<0.001 | Primary central nervous system lymphoma | Furthermore, for the methylenetetrahydrofolate reductase (MTHFR) c.1298A > C ... | BeFree | 20237949 | Detail |
0.013 | stomach carcinoma | Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... | BeFree | 21347786 | Detail |
0.021 | breast carcinoma | Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms ... | BeFree | 24945727 | Detail |
<0.001 | Overweight | Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overwei... | BeFree | 24959828 | Detail |
0.003 | Carcinoma of lung | A review was conducted of 136 patients treated with radiation therapy for lung c... | BeFree | 22144047 | Detail |
0.239 | Down syndrome | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), ... | BeFree | 15889417 | Detail |
0.002 | Mental disorders | Two polymorphisms of the MTHFR gene, C677T (rs1801133) and A1298C (rs1801131), w... | BeFree | 21819229 | Detail |
<0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | Quantitative assessment of the association between MTHFR rs1801131 polymorphism ... | BeFree | 24014085 | Detail |
0.040 | Down syndrome | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), ... | BeFree | 15889417 | Detail |
0.024 | Down syndrome | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), ... | BeFree | 15889417 | Detail |
0.008 | Huntington disease | Recently, suggestive association has been reported between a single nucleotide p... | BeFree | 16372906 | Detail |
<0.001 | Hypertensive disease | Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overwei... | BeFree | 24959828 | Detail |
0.011 | multiple sclerosis | The variant methylenetetrahydrofolate reductase c.1298A>C (p.E429A) is associ... | BeFree | 19854238 | Detail |
0.120 | Gastrointestinal Stromal Tumors | NA | CLINVAR | Detail | |
0.019 | Factor V Leiden mutation | SNP in these genes showed association with venous thrombosis risk in whites: MTH... | BeFree | 22707612 | Detail |
0.003 | Malignant neoplasm of liver | Quantitative assessment of the association between MTHFR rs1801131 polymorphism ... | BeFree | 24014085 | Detail |
0.153 | Down syndrome | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), ... | BeFree | 15889417 | Detail |
<0.001 | Neoplasm, Residual | Multiple Cox regression analyses revealed an association of minimal residual dis... | BeFree | 23652803 | Detail |
0.003 | Congenital omphalocele | In the total study population, variants in the transcobalamin receptor gene (TCb... | BeFree | 22116453 | Detail |
0.232 | Precursor Cell Lymphoblastic Leukemia Lymphoma | Multiple Cox regression analyses revealed an association of minimal residual dis... | BeFree | 23652803 | Detail |
0.036 | Malignant neoplasm of stomach | Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... | BeFree | 21347786 | Detail |
0.004 | esophageal carcinoma | Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (... | BeFree | 21347786 | Detail |
0.135 | Kidney Diseases | We analyzed 821 subjects with hypertensive nephrosclerosis from the longitudinal... | BeFree | 21613384 | Detail |
0.141 | bipolar disorder | We investigated the effect of polymorphic variants of c.1298A>C (Glu429Ala) a... | BeFree | 18513846 | Detail |
0.120 | Mthfr Deficiency, Thermolabile Type | NA | CLINVAR | Detail | |
0.002 | colorectal carcinoma | MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis i... | BeFree | 23626689 | Detail |
0.003 | Overweight | Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overwei... | BeFree | 24959828 | Detail |
0.022 | Malignant neoplasm of lung | A review was conducted of 136 patients treated with radiation therapy for lung c... | BeFree | 22144047 | Detail |
0.101 | Malignant neoplasm of breast | Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms ... | BeFree | 24945727 | Detail |
0.016 | Acute lymphocytic leukemia | Multiple Cox regression analyses revealed an association of minimal residual dis... | BeFree | 23652803 | Detail |
0.026 | colorectal carcinoma | MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis i... | BeFree | 23626689 | Detail |
<0.001 | Diabetes Mellitus, Non-Insulin-Dependent | MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high... | BeFree | 25074646 | Detail |
0.001 | attention deficit hyperactivity disorder | We hypothesized that ADHD related cognitive deficit could be attributed to abnor... | BeFree | 25079255 | Detail |
<0.001 | Bladder Neoplasm | Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... | BeFree | 17469025 | Detail |
0.023 | Bladder Neoplasm | Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... | BeFree | 17469025 | Detail |
0.133 | Bladder Neoplasm | Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... | BeFree | 17469025 | Detail |
0.218 | Bladder Neoplasm | Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... | BeFree | 17469025 | Detail |
0.154 | Bladder Neoplasm | Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... | BeFree | 17469025 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND MTHFR THERMOLABILE POLYMORPHISM | ClinVar | Detail |
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Schizophrenia, susceptibility to | ClinVar | Detail |
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Gastrointestinal stromal tumor | ClinVar | Detail |
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND not provided | ClinVar | Detail |
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Neural tube defects, folate-sensitive | ClinVar | Detail |
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND not specified | ClinVar | Detail |
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND Homocystinuria due to methylene tetrahydrofolate redu... | ClinVar | Detail |
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND MTHFR-related disorder | ClinVar | Detail |
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... | DisGeNET | Detail |
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... | DisGeNET | Detail |
Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and M... | DisGeNET | Detail |
Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and M... | DisGeNET | Detail |
Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and M... | DisGeNET | Detail |
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... | DisGeNET | Detail |
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... | DisGeNET | Detail |
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... | DisGeNET | Detail |
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... | DisGeNET | Detail |
In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both... | DisGeNET | Detail |
In this case-control study, we examined C677T and A1298C (rs1801133 and rs1801131) polymorphism in t... | DisGeNET | Detail |
In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A &... | DisGeNET | Detail |
Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR)... | DisGeNET | Detail |
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer ... | DisGeNET | Detail |
MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in the... | DisGeNET | Detail |
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... | DisGeNET | Detail |
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... | DisGeNET | Detail |
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer ... | DisGeNET | Detail |
Furthermore, for the methylenetetrahydrofolate reductase (MTHFR) c.1298A > C (E429A) polymorphism... | DisGeNET | Detail |
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... | DisGeNET | Detail |
Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene an... | DisGeNET | Detail |
Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR)... | DisGeNET | Detail |
A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 a... | DisGeNET | Detail |
In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A &... | DisGeNET | Detail |
Two polymorphisms of the MTHFR gene, C677T (rs1801133) and A1298C (rs1801131), were analyzed in a sa... | DisGeNET | Detail |
Quantitative assessment of the association between MTHFR rs1801131 polymorphism and risk of liver ca... | DisGeNET | Detail |
In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A &... | DisGeNET | Detail |
In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A &... | DisGeNET | Detail |
Recently, suggestive association has been reported between a single nucleotide polymorphism (SNP; rs... | DisGeNET | Detail |
Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR)... | DisGeNET | Detail |
The variant methylenetetrahydrofolate reductase c.1298A>C (p.E429A) is associated with multiple s... | DisGeNET | Detail |
NA | DisGeNET | Detail |
SNP in these genes showed association with venous thrombosis risk in whites: MTHFR rs1801131 (OR 1.5... | DisGeNET | Detail |
Quantitative assessment of the association between MTHFR rs1801131 polymorphism and risk of liver ca... | DisGeNET | Detail |
In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A &... | DisGeNET | Detail |
Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7... | DisGeNET | Detail |
In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8... | DisGeNET | Detail |
Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7... | DisGeNET | Detail |
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... | DisGeNET | Detail |
Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be inde... | DisGeNET | Detail |
We analyzed 821 subjects with hypertensive nephrosclerosis from the longitudinal National Institute ... | DisGeNET | Detail |
We investigated the effect of polymorphic variants of c.1298A>C (Glu429Ala) and c.677C>T (Ala2... | DisGeNET | Detail |
NA | DisGeNET | Detail |
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer ... | DisGeNET | Detail |
Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR)... | DisGeNET | Detail |
A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 a... | DisGeNET | Detail |
Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene an... | DisGeNET | Detail |
Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7... | DisGeNET | Detail |
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer ... | DisGeNET | Detail |
MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in the... | DisGeNET | Detail |
We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the fola... | DisGeNET | Detail |
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... | DisGeNET | Detail |
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... | DisGeNET | Detail |
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... | DisGeNET | Detail |
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... | DisGeNET | Detail |
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1801131 dbSNP
- Genome
- hg38
- Position
- chr1:11,794,419-11,794,419
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 157.73
- Standard deviation of sample read depth (HGVD)
- 75.49
- Number of reference allele (HGVD)
- 1930
- Number of alternative allele (HGVD)
- 488
- Allele Frequency (HGVD)
- 0.20181968569065342
- Gene Symbol (HGVD)
- MTHFR
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1801131
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.197
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3301
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 1857
- East Asian Heterozygous Counts (ExAC)
- 1415
- East Asian Homozygous Counts (ExAC)
- 221
- East Asian Allele Frequency (ExAC)
- 0.21483109671448403
- Chromosome Counts in All Race (ExAC)
- 121372
- Allele Counts in All Race (ExAC)
- 35805
- Heterozygous Counts in All Race (ExAC)
- 24061
- Homozygous Counts in All Race (ExAC)
- 5872
- Allele Frequency in All Race (ExAC)
- 0.29500214217447185
Genome browser