chr1:247672648:T>C Detail (hg38) (OR13G1)

Information

Genome

Assembly Position
hg19 chr1:247,835,950-247,835,950 View the variant detail on this assembly version.
hg38 chr1:247,672,648-247,672,648

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000642119.1:c.394A>G ENST00000642119.1:p.Ile132Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.617
ToMMo:0.631
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.604

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 611677 OMIM
HGNC 14999 HGNC
Ensembl ENSG00000197437 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5549138 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
0.005 myocardial infarction [Identification of four gene variants associated with myocardial infarction.] GAD 16175505 Detail
0.005 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.008 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.005 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.010 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.016 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.016 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.007 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.005 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.005 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
Annotation

Annotations

DescrptionSourceLinks
[Identification of four gene variants associated with myocardial infarction.] DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... 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
chr1:247,672,648-247,672,648
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
58.21
Standard deviation of sample read depth (HGVD)
28.61
Number of reference allele (HGVD)
926
Number of alternative allele (HGVD)
1494
Allele Frequency (HGVD)
0.6173553719008265
Gene Symbol (HGVD)
OR13G1
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))
rs1151640
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6307
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10571
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
5205
East Asian Heterozygous Counts (ExAC)
2057
East Asian Homozygous Counts (ExAC)
1574
East Asian Allele Frequency (ExAC)
0.6035482374768089
Chromosome Counts in All Race (ExAC)
121104
Allele Counts in All Race (ExAC)
53928
Heterozygous Counts in All Race (ExAC)
27856
Homozygous Counts in All Race (ExAC)
13036
Allele Frequency in All Race (ExAC)
0.44530321046373367
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