chr11:102779693:C>T Detail (hg38) (MMP10)

Information

Genome

Assembly Position
hg19 chr11:102,650,424-102,650,424 View the variant detail on this assembly version.
hg38 chr11:102,779,693-102,779,693

HGVS

Type Transcript Protein
RefSeq NM_002425.2:c.158G>A NP_002416.1:p.Arg53Lys
Ensemble ENST00000279441.9:c.158G>A ENST00000279441.9:p.Arg53Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
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 185260 OMIM
HGNC 7156 HGNC
Ensembl ENSG00000166670 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43838003 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
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.129 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
Annotation

Annotations

DescrptionSourceLinks
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... 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
hg38
Position
chr11:102,779,693-102,779,693
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
184.24
Standard deviation of sample read depth (HGVD)
78.36
Number of reference allele (HGVD)
2418
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.264462809917355E-4
Gene Symbol (HGVD)
MMP10
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))
rs486055
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))
16758
East Asian Chromosome Counts (ExAC)
8610
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3228803716608595E-4
Chromosome Counts in All Race (ExAC)
120704
Allele Counts in All Race (ExAC)
12744
Heterozygous Counts in All Race (ExAC)
10890
Homozygous Counts in All Race (ExAC)
927
Allele Frequency in All Race (ExAC)
0.10558059384941676
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