chr15:39882178:A>G Detail (hg19) (THBS1)

Information

Genome

Assembly Position
hg19 chr15:39,882,178-39,882,178
hg38 chr15:39,589,977-39,589,977 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003246.3:c.2099A>G NP_003237.2:p.Asn700Ser
Ensemble ENST00000260356.6:c.2099A>G ENST00000260356.6:p.Asn700Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 188060 OMIM
HGNC 11785 HGNC
Ensembl ENSG00000137801 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52609239 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
0.013 myocardial infarction Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... BeFree 12482844 Detail
0.094 myocardial infarction Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... BeFree 12482844 Detail
<0.001 coronary artery disease Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... BeFree 12482844 Detail
0.007 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.002 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.082 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.160 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.004 Coronary Arteriosclerosis A missense variant in thrombospondin-1 (N700S) was associated with an adjusted o... BeFree 11723011 Detail
0.003 Coronary Arteriosclerosis Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombos... BeFree 21762961 Detail
0.004 coronary artery disease A missense variant in thrombospondin-1 (N700S) was associated with an adjusted o... BeFree 11723011 Detail
0.004 coronary artery disease We conclude that a relationship between the THBS-1 N700S polymorphism and premat... BeFree 12482844 Detail
0.094 myocardial infarction Genetic association analysis of myocardial infarction with thrombospondin-1 N700... BeFree 15140581 Detail
<0.001 Coronary heart disease Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombos... BeFree 21762961 Detail
0.001 Coronary heart disease A missense variant in thrombospondin-1 (N700S) was associated with an adjusted o... BeFree 11723011 Detail
<0.001 coronary artery disease Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombos... BeFree 21762961 Detail
0.094 myocardial infarction The thrombospondin-1 N700S polymorphism is associated with early myocardial infa... BeFree 16684956 Detail
0.019 myocardial infarction The thrombospondin-1 N700S polymorphism is associated with early myocardial infa... BeFree 16684956 Detail
0.008 myocardial infarction Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombos... BeFree 21762961 Detail
Annotation

Annotations

DescrptionSourceLinks
Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T&gt;G sub... DisGeNET Detail
Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T&gt;G sub... DisGeNET Detail
Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T&gt;G sub... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
A missense variant in thrombospondin-1 (N700S) was associated with an adjusted odds ratio for corona... DisGeNET Detail
Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) va... DisGeNET Detail
A missense variant in thrombospondin-1 (N700S) was associated with an adjusted odds ratio for corona... DisGeNET Detail
We conclude that a relationship between the THBS-1 N700S polymorphism and premature CAD is unlikely. DisGeNET Detail
Genetic association analysis of myocardial infarction with thrombospondin-1 N700S variant in a Chine... DisGeNET Detail
Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) va... DisGeNET Detail
A missense variant in thrombospondin-1 (N700S) was associated with an adjusted odds ratio for corona... DisGeNET Detail
Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) va... DisGeNET Detail
The thrombospondin-1 N700S polymorphism is associated with early myocardial infarction without alter... DisGeNET Detail
The thrombospondin-1 N700S polymorphism is associated with early myocardial infarction without alter... 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
rs2228262 dbSNP
Genome
hg19
Position
chr15:39,882,178-39,882,178
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))
rs2228262
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7256
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.512679162072767E-4
Chromosome Counts in All Race (ExAC)
104162
Allele Counts in All Race (ExAC)
9644
Heterozygous Counts in All Race (ExAC)
8602
Homozygous Counts in All Race (ExAC)
521
Allele Frequency in All Race (ExAC)
0.09258654787734491
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