chr6:134214525:C>G Detail (hg19) (TCF21)

Information

Genome

Assembly Position
hg19 chr6:134,214,525-134,214,525
hg38 chr6:133,893,387-133,893,387 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_198392.2:c.*241C>G
Ensemble ENST00000237316.3:c.*241C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.427
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 603306 OMIM
HGNC 11632 HGNC
Ensembl ENSG00000118526 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27100161 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 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.242 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
0.121 Coronary heart disease Large-scale association analysis identifies 13 new susceptibility loci for coron... GWASCAT 21378990 Detail
<0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.003 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.242 coronary artery disease Shared genetic susceptibility to ischemic stroke and coronary artery disease: a ... GWASCAT 24262325 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
Annotation

Annotations

DescrptionSourceLinks
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... 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
rs12190287 dbSNP
Genome
hg19
Position
chr6:134,214,525-134,214,525
Variant Type
snv
Reference Allele
C
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))
rs12190287
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4274
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7164
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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