chr6:150931849:G>A Detail (hg38) (MTHFD1L)

Information

Genome

Assembly Position
hg19 chr6:151,252,985-151,252,985 View the variant detail on this assembly version.
hg38 chr6:150,931,849-150,931,849

HGVS

Type Transcript Protein
RefSeq NM_001242767.1:c.1260-4955G>A
NM_015440.4:c.1260-4955G>A
NM_001242768.1:c.1062-4955G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.013
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 611427 OMIM
HGNC 21055 HGNC
Ensembl ENSG00000120254 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27471628 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Acute coronary syndrome After Cox adjustment for other ACS risk factors, of 95 SNPs tested in 811 whites... BeFree 21957892 Detail
0.012 coronary artery disease Polymorphisms in MTHFD1L, including rs6922269, have been implicated in risk for ... BeFree 24618918 Detail
<0.001 Acute coronary syndrome Genetic polymorphism rs6922269 in the MTHFD1L gene is associated with survival a... BeFree 24618918 Detail
0.123 Coronary heart disease MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at basel... BeFree 24618918 Detail
<0.001 Coronary Arteriosclerosis MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at basel... BeFree 24618918 Detail
0.123 Coronary heart disease Genomewide association analysis of coronary artery disease. GWASCAT 17634449 Detail
0.123 Coronary heart disease [We identified several genetic loci that, individually and in aggregate, substan... GAD 17634449 Detail
<0.001 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.007 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.123 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.123 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.126 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.005 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
Annotation

Annotations

DescrptionSourceLinks
After Cox adjustment for other ACS risk factors, of 95 SNPs tested in 811 whites only the associatio... DisGeNET Detail
Polymorphisms in MTHFD1L, including rs6922269, have been implicated in risk for coronary artery dise... DisGeNET Detail
Genetic polymorphism rs6922269 in the MTHFD1L gene is associated with survival and baseline active v... DisGeNET Detail
MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a mar... DisGeNET Detail
MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a mar... DisGeNET Detail
Genomewide association analysis of coronary artery disease. DisGeNET Detail
[We identified several genetic loci that, individually and in aggregate, substantially affect the ri... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6922269 dbSNP
Genome
hg38
Position
chr6:150,931,849-150,931,849
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs6922269
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0125
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
209
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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