chr11:117220893:G>C Detail (hg38) (PCSK7)

Information

Genome

Assembly Position
hg19 chr11:117,091,609-117,091,609 View the variant detail on this assembly version.
hg38 chr11:117,220,893-117,220,893

HGVS

Type Transcript Protein
RefSeq NM_004716.3:c.1156-1135C>G
Ensemble ENST00000320934.8:c.1156-1135C>G
ENST00000524507.6:c.1156-1135C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.409
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 604872 OMIM
HGNC 8748 HGNC
Ensembl ENSG00000160613 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44170674 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
0.090 liver cirrhosis PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... BeFree 24556216 Detail
0.014 Cirrhosis PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... BeFree 24556216 Detail
<0.001 Cirrhosis PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... BeFree 24556216 Detail
<0.001 obesity PCSK7 rs236918 was genotyped in 730 overweight or obese adults (80% whites) in t... BeFree 25504030 Detail
<0.001 Overweight PCSK7 rs236918 was genotyped in 730 overweight or obese adults (80% whites) in t... BeFree 25504030 Detail
Annotation

Annotations

DescrptionSourceLinks
PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... DisGeNET Detail
PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... DisGeNET Detail
PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... DisGeNET Detail
PCSK7 rs236918 was genotyped in 730 overweight or obese adults (80% whites) in this trial. DisGeNET Detail
PCSK7 rs236918 was genotyped in 730 overweight or obese adults (80% whites) in this trial. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs236918 dbSNP
Genome
hg38
Position
chr11:117,220,893-117,220,893
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs236918
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4086
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6847
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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