chr7:101131468:A>G Detail (hg38) (SERPINE1)

Information

Genome

Assembly Position
hg19 chr7:100,774,749-100,774,749 View the variant detail on this assembly version.
hg38 chr7:101,131,468-101,131,468

HGVS

Type Transcript Protein
RefSeq NM_000602.4:c.506-407A>G
Ensemble ENST00000223095.5:c.506-407A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.377
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
Type Database ID Link
Gene MIM 173360 OMIM
HGNC 8583 HGNC
Ensembl ENSG00000106366 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30350119 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
0.001 multiple myeloma None of the selected SNPs were significantly associated with multiple myeloma ri... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
Annotation

Annotations

DescrptionSourceLinks
None of the selected SNPs were significantly associated with multiple myeloma risk (P value range, 0... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2227667 dbSNP
Genome
hg38
Position
chr7:101,131,468-101,131,468
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))
rs2227667
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3767
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6312
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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