chr1:11788011:G>C Detail (hg38) (MTHFR, C1orf167)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,848,068-11,848,068 View the variant detail on this assembly version. |
hg38 | chr1:11,788,011-11,788,011 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001010881.1:c.3326G>C | NP_001010881.1:p.Cys1109Ser |
Ensemble | ENST00000433342.6:c.3326G>C | ENST00000433342.6:p.Cys1109Ser |
ENST00000688073.1:c.3812G>C | ENST00000688073.1:p.Cys1271Ser |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005957.4:c.*2669C>G | |
Ensemble | ENST00000376583.7:c.*2669C>G | |
ENST00000376585.6:c.*2669C>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.091 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.149 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.021 | breast carcinoma | We found three single-nucleotide polymorphisms in those genes associated with LI... | BeFree | 24130171 | Detail |
0.006 | Malignant neoplasm of breast | We found three single-nucleotide polymorphisms in those genes associated with LI... | BeFree | 24130171 | Detail |
0.101 | Malignant neoplasm of breast | We found three single-nucleotide polymorphisms in those genes associated with LI... | BeFree | 24130171 | Detail |
0.003 | breast carcinoma | We found three single-nucleotide polymorphisms in those genes associated with LI... | BeFree | 24130171 | Detail |
0.003 | breast carcinoma | We found three single-nucleotide polymorphisms in those genes associated with LI... | BeFree | 24130171 | Detail |
0.017 | Malignant neoplasm of breast | We found three single-nucleotide polymorphisms in those genes associated with LI... | BeFree | 24130171 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... | DisGeNET | Detail |
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... | DisGeNET | Detail |
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... | DisGeNET | Detail |
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... | DisGeNET | Detail |
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... | DisGeNET | Detail |
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... | 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
- rs1537514 dbSNP
- Genome
- hg38
- Position
- chr1:11,788,011-11,788,011
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs1537514
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.091
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1525
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 482
- East Asian Allele Counts (ExAC)
- 72
- East Asian Heterozygous Counts (ExAC)
- 54
- East Asian Homozygous Counts (ExAC)
- 9
- East Asian Allele Frequency (ExAC)
- 0.14937759336099585
- Chromosome Counts in All Race (ExAC)
- 14952
- Allele Counts in All Race (ExAC)
- 1959
- Heterozygous Counts in All Race (ExAC)
- 1645
- Homozygous Counts in All Race (ExAC)
- 157
- Allele Frequency in All Race (ExAC)
- 0.13101926163723918
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