chr7:128933913:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr7:128,573,967-128,573,967 View the variant detail on this assembly version.
hg38 chr7:128,933,913-128,933,913

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.108
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 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.006 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.121 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.123 progressive supranuclear palsy We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 progressive supranuclear palsy We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.257 systemic scleroderma Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), ... BeFree 22440820 Detail
0.246 systemic scleroderma Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), ... BeFree 22440820 Detail
<0.001 Kidney Diseases Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes m... BeFree 23023776 Detail
<0.001 Kidney Diseases Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes m... BeFree 23023776 Detail
0.009 Kidney Diseases Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes m... BeFree 23023776 Detail
<0.001 Lung Diseases, Interstitial An SNP in the IRF5 promoter region (rs4728142), associated with lower IRF5 trans... BeFree 22440820 Detail
0.005 Lupus Erythematosus, Systemic NA GAD Detail
0.002 ulcerative colitis [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing... GAD 21297633 Detail
0.005 Lupus Erythematosus, Systemic [Genome-wide association study in a Chinese Han population identifies nine new s... GAD 19838193 Detail
Annotation

Annotations

DescrptionSourceLinks
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), C... DisGeNET Detail
Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), C... DisGeNET Detail
Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes most associated with ... DisGeNET Detail
Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes most associated with ... DisGeNET Detail
Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes most associated with ... DisGeNET Detail
An SNP in the IRF5 promoter region (rs4728142), associated with lower IRF5 transcript levels, was pr... DisGeNET Detail
NA DisGeNET Detail
[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confi... DisGeNET Detail
[Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci f... DisGeNET Detail
Gene
-
dbSNP
rs4728142 dbSNP
Genome
hg38
Position
chr7:128,933,913-128,933,913
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))
rs4728142
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1078
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1807
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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