chr7:99770202:T>C Detail (hg38) (CYP3A4)

Information

Genome

Assembly Position
hg19 chr7:99,367,825-99,367,825 View the variant detail on this assembly version.
hg38 chr7:99,770,202-99,770,202

HGVS

Type Transcript Protein
RefSeq NM_001202855.2:c.352A>G NP_001189784.1:p.Ile118Val
NM_017460.5:c.352A>G NP_059488.2:p.Ile118Val
Ensemble ENST00000336411.7:c.352A>G ENST00000336411.7:p.Ile118Val
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:0.006

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 124010 OMIM
HGNC 2637 HGNC
Ensembl ENSG00000160868 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30283506 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
0.130 Hypercholesterolemia Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.008 Hypercholesterolemia Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.006 Hypertensive disease Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.018 Hypertensive disease Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.428 Hypercholesterolemia Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.005 Hypertensive disease Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.008 Hypertensive disease Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.003 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.003 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Subarachnoid Hemorrhage An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.006 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.011 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Subarachnoid Hemorrhage An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
Annotation

Annotations

DescrptionSourceLinks
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... 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
chr7:99,770,202-99,770,202
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
81.16
Standard deviation of sample read depth (HGVD)
39.04
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
CYP3A4
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))
rs55951658
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8586
East Asian Allele Counts (ExAC)
50
East Asian Heterozygous Counts (ExAC)
50
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0058234334963894714
Chromosome Counts in All Race (ExAC)
121188
Allele Counts in All Race (ExAC)
54
Heterozygous Counts in All Race (ExAC)
54
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.45588672145757E-4
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