chr6:39357302:A>G Detail (hg38) (KIF6)

Information

Genome

Assembly Position
hg19 chr6:39,325,078-39,325,078 View the variant detail on this assembly version.
hg38 chr6:39,357,302-39,357,302

HGVS

Type Transcript Protein
RefSeq NM_001289024.1:c.508T>C NP_001275953.1:p.Trp170Arg
NM_001289020.1:c.2155T>C NP_001275949.1:p.Trp719Arg
NM_001289021.1:c.2155T>C NP_001275950.1:p.Trp719Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.490
ToMMo:0.491
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.468

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 613919 OMIM
HGNC 21202 HGNC
Ensembl ENSG00000164627 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv25050246 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2021-03-24 reviewed by expert panel germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Coronary heart disease Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 geno... BeFree 22192511 Detail
0.010 Coronary heart disease Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 geno... BeFree 22192511 Detail
0.025 Coronary heart disease Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 geno... BeFree 22192511 Detail
0.134 myocardial infarction Investigation of KIF6 Trp719Arg in a case-control study of myocardial infarction... BeFree 20927332 Detail
0.002 atherosclerosis The 719Arg allele of KIF6 (rs20455) has been reported to be associated with incr... BeFree 18222354 Detail
<0.001 arteriosclerosis The 719Arg allele of KIF6 (rs20455) has been reported to be associated with incr... BeFree 18222354 Detail
0.025 Coronary heart disease Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disea... BeFree 21810021 Detail
<0.001 Coronary heart disease A single nucleotide polymorphism (SNP) in KIF6, a member of the KIF9 family of k... BeFree 20886236 Detail
0.007 Coronary Arteriosclerosis Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic... BeFree 23236363 Detail
<0.001 Coronary Arteriosclerosis Survival bias and drug interaction can attenuate cross-sectional case-control co... BeFree 21435211 Detail
<0.001 Coronary Arteriosclerosis Survival bias and drug interaction can attenuate cross-sectional case-control co... BeFree 21435211 Detail
0.010 Coronary heart disease Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic... BeFree 23236363 Detail
0.010 Coronary heart disease The 719Arg allele of KIF6 (rs20455) has been reported to be associated with incr... BeFree 18222354 Detail
<0.001 coronary artery disease A single-nucleotide polymorphism Trp719Arg (rs20455T&gt;C) in the kinesin-like p... BeFree 21810021 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent We investigated whether KIF6 Trp719Arg genotypes affect cardiovascular outcomes ... BeFree 21871624 Detail
0.006 coronary artery disease A single-nucleotide polymorphism Trp719Arg (rs20455T&gt;C) in the kinesin-like p... BeFree 21810021 Detail
0.002 arteriosclerosis The 719Arg allele of KIF6 (rs20455) has been reported to be associated with incr... BeFree 18222354 Detail
0.002 Coronary Arteriosclerosis Survival bias and drug interaction can attenuate cross-sectional case-control co... BeFree 21435211 Detail
<0.001 coronary artery disease Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disea... BeFree 21810021 Detail
<0.001 Coronary heart disease Survival bias and drug interaction can attenuate cross-sectional case-control co... BeFree 21435211 Detail
0.025 Coronary heart disease Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic... BeFree 23236363 Detail
0.002 Coronary Arteriosclerosis Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic... BeFree 23236363 Detail
0.006 atherosclerosis The 719Arg allele of KIF6 (rs20455) has been reported to be associated with incr... BeFree 18222354 Detail
0.003 Cardiovascular Diseases Cardiovascular disease (CVD) risks were assigned by the Framingham equation and ... BeFree 21435211 Detail
0.001 Coronary heart disease Survival bias and drug interaction can attenuate cross-sectional case-control co... BeFree 21435211 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent We investigated whether KIF6 Trp719Arg genotypes affect cardiovascular outcomes ... BeFree 21871624 Detail
0.025 Coronary heart disease Survival bias and drug interaction can attenuate cross-sectional case-control co... BeFree 21435211 Detail
0.002 Coronary Arteriosclerosis Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disea... BeFree 21810021 Detail
0.010 Coronary heart disease Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20... BeFree 22192511 Detail
<0.001 arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.003 atherosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.002 Coronary Arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.006 atherosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.007 Coronary heart disease We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.001 Coronary heart disease Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20... BeFree 22192511 Detail
<0.001 arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.010 Coronary heart disease We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.007 Coronary heart disease We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.005 Cerebrovascular accident The odds ratios for noncardioembolic stroke were 1.31 (90% CI 1.07-1.60) for rs3... BeFree 19752551 Detail
<0.001 Coronary Arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 Coronary Arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.025 Coronary heart disease We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.003 atherosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 Coronary Arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.003 atherosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_145027.6(KIF6):c.2155T>C (p.Trp719Arg) AND pravastatin response - Efficacy ClinVar Detail
Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 genotypes are not useful... DisGeNET Detail
Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 genotypes are not useful... DisGeNET Detail
Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 genotypes are not useful... DisGeNET Detail
Investigation of KIF6 Trp719Arg in a case-control study of myocardial infarction: a Costa Rican popu... DisGeNET Detail
The 719Arg allele of KIF6 (rs20455) has been reported to be associated with increased risk of CHD in... DisGeNET Detail
The 719Arg allele of KIF6 (rs20455) has been reported to be associated with increased risk of CHD in... DisGeNET Detail
Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disease in Western Indian... DisGeNET Detail
A single nucleotide polymorphism (SNP) in KIF6, a member of the KIF9 family of kinesins, is associat... DisGeNET Detail
Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect. DisGeNET Detail
Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes w... DisGeNET Detail
Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes w... DisGeNET Detail
Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect. DisGeNET Detail
The 719Arg allele of KIF6 (rs20455) has been reported to be associated with increased risk of CHD in... DisGeNET Detail
A single-nucleotide polymorphism Trp719Arg (rs20455T&gt;C) in the kinesin-like protein 6 (KIF6), whi... DisGeNET Detail
We investigated whether KIF6 Trp719Arg genotypes affect cardiovascular outcomes and efficacy of stat... DisGeNET Detail
A single-nucleotide polymorphism Trp719Arg (rs20455T&gt;C) in the kinesin-like protein 6 (KIF6), whi... DisGeNET Detail
The 719Arg allele of KIF6 (rs20455) has been reported to be associated with increased risk of CHD in... DisGeNET Detail
Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes w... DisGeNET Detail
Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disease in Western Indian... DisGeNET Detail
Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes w... DisGeNET Detail
Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect. DisGeNET Detail
Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect. DisGeNET Detail
The 719Arg allele of KIF6 (rs20455) has been reported to be associated with increased risk of CHD in... DisGeNET Detail
Cardiovascular disease (CVD) risks were assigned by the Framingham equation and events distributed a... DisGeNET Detail
Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes w... DisGeNET Detail
We investigated whether KIF6 Trp719Arg genotypes affect cardiovascular outcomes and efficacy of stat... DisGeNET Detail
Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes w... DisGeNET Detail
Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disease in Western Indian... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20455 or 719Arg), LPA ... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20455 or 719Arg), LPA ... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
The odds ratios for noncardioembolic stroke were 1.31 (90% CI 1.07-1.60) for rs3900940 in MYH15, 1.2... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... 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
rs20455 dbSNP
Genome
hg38
Position
chr6:39,357,302-39,357,302
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1166
Mean of sample read depth (HGVD)
28.26
Standard deviation of sample read depth (HGVD)
19.53
Number of reference allele (HGVD)
1190
Number of alternative allele (HGVD)
1142
Allele Frequency (HGVD)
0.4897084048027444
Gene Symbol (HGVD)
KIF6
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))
rs20455
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4912
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8233
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
4049
East Asian Heterozygous Counts (ExAC)
2127
East Asian Homozygous Counts (ExAC)
961
East Asian Allele Frequency (ExAC)
0.46841739935215176
Chromosome Counts in All Race (ExAC)
121364
Allele Counts in All Race (ExAC)
50681
Heterozygous Counts in All Race (ExAC)
27427
Homozygous Counts in All Race (ExAC)
11627
Allele Frequency in All Race (ExAC)
0.4175950034606638
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