chr6:169617726:A>C Detail (hg19) (THBS2)

Information

Genome

Assembly Position
hg19 chr6:169,617,726-169,617,726
hg38 chr6:169,217,631-169,217,631 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003247.3:c.*191T>G
Ensemble ENST00000366787.7:c.*191T>G
ENST00000617924.6:c.*191T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.086
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 188061 OMIM
HGNC 11786 HGNC
Ensembl ENSG00000186340 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27923854 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
0.003 Coronary Arteriosclerosis Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombos... BeFree 21762961 Detail
<0.001 Coronary heart disease Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombos... BeFree 21762961 Detail
<0.001 coronary artery disease Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombos... BeFree 21762961 Detail
0.008 myocardial infarction Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombos... BeFree 21762961 Detail
Annotation

Annotations

DescrptionSourceLinks
Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) va... DisGeNET Detail
Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) va... DisGeNET Detail
Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) va... DisGeNET Detail
Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) va... 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
rs8089 dbSNP
Genome
hg19
Position
chr6:169,617,726-169,617,726
Variant Type
snv
Reference Allele
A
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))
rs8089
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0859
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1440
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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