chr1:11802721:A>G Detail (hg38) (MTHFR)

Information

Genome

Assembly Position
hg19 chr1:11,862,778-11,862,778 View the variant detail on this assembly version.
hg38 chr1:11,802,721-11,802,721

HGVS

Type Transcript Protein
RefSeq NM_005957.4:c.236+160T>C
Ensemble ENST00000376583.7:c.359+160T>C
ENST00000376585.6:c.359+160T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.104
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607093 OMIM
HGNC 7436 HGNC
Ensembl ENSG00000177000 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv380896 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-07-27 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hypertensive disease The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-r... BeFree 20852445 Detail
0.002 Hypertensive disease The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-r... BeFree 20852445 Detail
0.127 Systemic arterial pressure [Genome-wide association study identifies six new loci influencing pulse pressur... GAD 21909110 Detail
0.125 Blood pressure finding [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.127 Systemic arterial pressure [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.125 Blood pressure finding [Genome-wide association study identifies six new loci influencing pulse pressur... GAD 21909110 Detail
0.127 Systemic arterial pressure Genome-wide association study identifies six new loci influencing pulse pressure... GWASCAT 21909110 Detail
0.125 Blood pressure finding Genome-wide association study identifies six new loci influencing pulse pressure... GWASCAT 21909110 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005957.5(MTHFR):c.236+160T>C AND not provided ClinVar Detail
The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-r... DisGeNET Detail
The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-r... DisGeNET Detail
[Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial ... DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
[Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial ... DisGeNET Detail
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial p... DisGeNET Detail
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial p... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17367504 dbSNP
Genome
hg38
Position
chr1:11,802,721-11,802,721
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs17367504
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1039
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1742
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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