chr16:55512377:C>T Detail (hg19) (MMP2)

Information

Genome

Assembly Position
hg19 chr16:55,512,377-55,512,377
hg38 chr16:55,478,465-55,478,465 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000570308.5:c.-75-4444C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.276
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 120360 OMIM
HGNC 7166 HGNC
Ensembl ENSG00000087245 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55581066 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
0.011 coronary artery disease We explored the association of MMP2 (C-735T, rs2285053), MMP7 (A-181G, rs1156881... BeFree 22664146 Detail
0.201 Aortic Aneurysm, Thoracic Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... BeFree 25120286 Detail
0.201 Aortic Aneurysm, Thoracic Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... BeFree 25120286 Detail
<0.001 Aortic Aneurysm, Thoracic Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... BeFree 25120286 Detail
Annotation

Annotations

DescrptionSourceLinks
We explored the association of MMP2 (C-735T, rs2285053), MMP7 (A-181G, rs11568818) and MMP9 (R279Q, ... DisGeNET Detail
Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... DisGeNET Detail
Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... DisGeNET Detail
Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2285053 dbSNP
Genome
hg19
Position
chr16:55,512,377-55,512,377
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs2285053
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2761
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4628
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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