chr15:67458639:T>C Detail (hg19) (SMAD3)

Information

Genome

Assembly Position
hg19 chr15:67,458,639-67,458,639
hg38 chr15:67,166,301-67,166,301 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005902.3:c.533-478T>C
NM_001145104.1:c.-54+108T>C
NM_001145102.1:c.218-478T>C
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:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603109 OMIM
HGNC 6769 HGNC
Ensembl ENSG00000166949 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53359658 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-05-15 criteria provided, single submitter not provided germline Detail
Benign 2022-05-12 criteria provided, single submitter Coronary artery disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 arteriosclerosis SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovas... BeFree 24204921 Detail
<0.001 arteriosclerosis SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovas... BeFree 24204921 Detail
0.123 Coronary heart disease Genomewide association analysis of coronary artery disease. GWASCAT 17634449 Detail
<0.001 rheumatoid arthritis SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovas... BeFree 24204921 Detail
0.123 Coronary heart disease [We identified several genetic loci that, individually and in aggregate, substan... GAD 17634449 Detail
<0.001 atherosclerosis SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovas... BeFree 24204921 Detail
<0.001 Cerebrovascular accident SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovas... BeFree 24204921 Detail
<0.001 atherosclerosis SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovas... BeFree 24204921 Detail
<0.001 Cerebrovascular accident SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovas... BeFree 24204921 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
NM_005902.4(SMAD3):c.533-478T>C AND not provided ClinVar Detail
NM_005902.4(SMAD3):c.533-478T>C AND Coronary artery disorder ClinVar Detail
SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovascular accidents and ... DisGeNET Detail
SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovascular accidents and ... DisGeNET Detail
Genomewide association analysis of coronary artery disease. DisGeNET Detail
SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovascular accidents and ... DisGeNET Detail
[We identified several genetic loci that, individually and in aggregate, substantially affect the ri... DisGeNET Detail
SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovascular accidents and ... DisGeNET Detail
SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovascular accidents and ... DisGeNET Detail
SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovascular accidents and ... DisGeNET Detail
SMAD3 rs17228212 gene polymorphism is associated with reduced risk to cerebrovascular accidents and ... 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
rs17228212 dbSNP
Genome
hg19
Position
chr15:67,458,639-67,458,639
Variant Type
snv
Reference Allele
T
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))
rs17228212
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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