chr8:9184231:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr8:9,184,231-9,184,231
hg38 chr8:9,326,721-9,326,721 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.987
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 obesity By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
0.009 Steatohepatitis We used data from the National Health and Nutrition Examination Survey III to va... BeFree 23416328 Detail
0.163 Fatty Liver We used data from the National Health and Nutrition Examination Survey III to va... BeFree 23416328 Detail
Annotation

Annotations

DescrptionSourceLinks
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We used data from the National Health and Nutrition Examination Survey III to validate the associati... DisGeNET Detail
We used data from the National Health and Nutrition Examination Survey III to validate the associati... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4240624 dbSNP
Genome
hg19
Position
chr8:9,184,231-9,184,231
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs4240624
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9874
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16548
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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