chr15:78796769:A>G Detail (hg38) (ADAMTS7)

Information

Genome

Assembly Position
hg19 chr15:79,089,111-79,089,111 View the variant detail on this assembly version.
hg38 chr15:78,796,769-78,796,769

HGVS

Type Transcript Protein
RefSeq NM_014272.4:c.640T>C NP_055087.2:p.Ser214Pro
Ensemble ENST00000388820.5:c.640T>C ENST00000388820.5:p.Ser214Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.122
ToMMo:0.140
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.155

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605009 OMIM
HGNC 223 HGNC
Ensembl ENSG00000136378 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53660570 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign no assertion criteria provided Three Vessel Coronary Disease somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.253 coronary artery disease Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional lo... BeFree 23561647 Detail
0.246 coronary artery disease Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional lo... BeFree 23561647 Detail
<0.001 Coronary Arteriosclerosis Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 Coronary heart disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 coronary artery disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.246 coronary artery disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.121 Coronary heart disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 Coronary heart disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.002 Coronary Arteriosclerosis Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 coronary artery disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 rheumatoid arthritis Our results do not confirm association between ABO rs579459, PPAP2B rs17114036, ... BeFree 24795506 Detail
<0.001 Coronary Arteriosclerosis Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.248 coronary artery disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 Coronary Arteriosclerosis Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.122 Coronary heart disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.122 Coronary heart disease Large-scale association analysis identifies 13 new susceptibility loci for coron... GWASCAT 21378990 Detail
0.003 atherosclerosis The results of our study indicate that rs3825807 has an effect on ADAMTS7 matura... BeFree 23415669 Detail
0.001 arteriosclerosis The results of our study indicate that rs3825807 has an effect on ADAMTS7 matura... BeFree 23415669 Detail
<0.001 atherosclerosis The results of our study indicate that rs3825807 has an effect on ADAMTS7 matura... BeFree 23415669 Detail
0.246 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
<0.001 arteriosclerosis The results of our study indicate that rs3825807 has an effect on ADAMTS7 matura... BeFree 23415669 Detail
<0.001 coronary artery disease The results of our study indicate that rs3825807 has an effect on ADAMTS7 matura... BeFree 23415669 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_014272.5(ADAMTS7):c.640T>C (p.Ser214Pro) AND Three Vessel Coronary Disease ClinVar Detail
Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs382... DisGeNET Detail
Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs382... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Our results do not confirm association between ABO rs579459, PPAP2B rs17114036, ADAMTS7 rs3825807, P... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. DisGeNET Detail
The results of our study indicate that rs3825807 has an effect on ADAMTS7 maturation, thrombospondin... DisGeNET Detail
The results of our study indicate that rs3825807 has an effect on ADAMTS7 maturation, thrombospondin... DisGeNET Detail
The results of our study indicate that rs3825807 has an effect on ADAMTS7 maturation, thrombospondin... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
The results of our study indicate that rs3825807 has an effect on ADAMTS7 maturation, thrombospondin... DisGeNET Detail
The results of our study indicate that rs3825807 has an effect on ADAMTS7 maturation, thrombospondin... 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
rs3825807 dbSNP
Genome
hg38
Position
chr15:78,796,769-78,796,769
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1141
Mean of sample read depth (HGVD)
36.20
Standard deviation of sample read depth (HGVD)
16.34
Number of reference allele (HGVD)
2003
Number of alternative allele (HGVD)
279
Allele Frequency (HGVD)
0.12226117440841368
Gene Symbol (HGVD)
ADAMTS7
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))
rs3825807
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1405
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2354
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7662
East Asian Allele Counts (ExAC)
1191
East Asian Heterozygous Counts (ExAC)
1039
East Asian Homozygous Counts (ExAC)
76
East Asian Allele Frequency (ExAC)
0.15544244322631168
Chromosome Counts in All Race (ExAC)
113266
Allele Counts in All Race (ExAC)
40654
Heterozygous Counts in All Race (ExAC)
25022
Homozygous Counts in All Race (ExAC)
7816
Allele Frequency in All Race (ExAC)
0.358925008387336
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