chr11:102736642:T>C Detail (hg19) (MMP12)

Information

Genome

Assembly Position
hg19 chr11:102,736,642-102,736,642
hg38 chr11:102,865,911-102,865,911 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002426.5:c.1068A>G NP_002417.2:p.Gln356=
Ensemble ENST00000571244.3:c.1068A>G ENST00000571244.3:p.Gln356=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.046
ToMMo:0.051
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.122

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601046 OMIM
HGNC 7158 HGNC
Ensembl ENSG00000262406 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43840874 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
0.009 Malignant neoplasm of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
0.002 Carcinoma of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
0.001 Carcinoma of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
0.016 Malignant neoplasm of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
0.025 Chronic Obstructive Airway Disease To investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G--&g... BeFree 20160424 Detail
<0.001 Aggressive periodontitis, generalized MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. BeFree 18052707 Detail
<0.001 Aggressive periodontitis, generalized MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. BeFree 18052707 Detail
Annotation

Annotations

DescrptionSourceLinks
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
To investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G--&gt;GG, MMP-9 -1562C--... DisGeNET Detail
MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. DisGeNET Detail
MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. 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
-
Genome
hg19
Position
chr11:102,736,642-102,736,642
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1192
Mean of sample read depth (HGVD)
44.73
Standard deviation of sample read depth (HGVD)
35.67
Number of reference allele (HGVD)
2274
Number of alternative allele (HGVD)
110
Allele Frequency (HGVD)
0.04614093959731544
Gene Symbol (HGVD)
MMP12
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))
rs652438
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0512
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
858
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8558
East Asian Allele Counts (ExAC)
1046
East Asian Heterozygous Counts (ExAC)
928
East Asian Homozygous Counts (ExAC)
59
East Asian Allele Frequency (ExAC)
0.12222481888291657
Chromosome Counts in All Race (ExAC)
119448
Allele Counts in All Race (ExAC)
8738
Heterozygous Counts in All Race (ExAC)
7850
Homozygous Counts in All Race (ExAC)
443
Allele Frequency in All Race (ExAC)
0.07315317125443707
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