chr7:101126257:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr7:100,769,538-100,769,538 View the variant detail on this assembly version.
hg38 chr7:101,126,257-101,126,257

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.558
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
0.006 Alzheimer's disease The purpose of this study was to explore the association between the SERPINE1 pr... BeFree 22503724 Detail
0.031 Coronary Arteriosclerosis [Plasminogen activator inhibitor-1 gene: selection of tagging single nucleotide ... GAD 16424345 Detail
Annotation

Annotations

DescrptionSourceLinks
The purpose of this study was to explore the association between the SERPINE1 promoter polymorphisms... DisGeNET Detail
[Plasminogen activator inhibitor-1 gene: selection of tagging single nucleotide polymorphisms and as... DisGeNET Detail
Gene
-
dbSNP
rs2227631 dbSNP
Genome
hg38
Position
chr7:101,126,257-101,126,257
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2227631
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.558
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9351
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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