Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12418744
rs12418744
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs508487
rs508487
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs199605734
rs199605734
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs236911
rs236911
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0202236
Disease:
Triglycerides measurement
A 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs508487
rs508487
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C1445957
Disease:
Serum total cholesterol measurement
C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs508487
rs508487
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C0392885
Disease:
High density lipoprotein measurement
C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs508487
rs508487
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C0202236
Disease:
Triglycerides measurement
C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs508487
rs508487
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride. 26763881 2016
dbSNP: rs142953140
rs142953140
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASCAT Although we did not identify new genes associated with LDL-C, we did identify four low-frequency (frequencies between 0.1% and 2%) variants (ANGPTL8 rs145464906 [c.361C>T; p.Gln121*], PAFAH1B2 rs186808413 [c.482C>T; p.Ser161Leu], COL18A1 rs114139997 [c.331G>A; p.Gly111Arg], and PCSK7 rs142953140 [c.1511G>A; p.Arg504His]) with large effects on HDL-C and/or triglycerides. 24507774 2014
dbSNP: rs142953140
rs142953140
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Although we did not identify new genes associated with LDL-C, we did identify four low-frequency (frequencies between 0.1% and 2%) variants (ANGPTL8 rs145464906 [c.361C>T; p.Gln121*], PAFAH1B2 rs186808413 [c.482C>T; p.Ser161Leu], COL18A1 rs114139997 [c.331G>A; p.Gly111Arg], and PCSK7 rs142953140 [c.1511G>A; p.Arg504His]) with large effects on HDL-C and/or triglycerides. 24507774 2014
dbSNP: rs150758276
rs150758276
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
C 0.700 GeneticVariation GWASDB Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. 23989729 2013
dbSNP: rs17120434
rs17120434
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17120434
rs17120434
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17120434
rs17120434
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2238005
rs2238005
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs2306473
rs2306473
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs641620
rs641620
Entrez Id: 6876;9159;100652768
Gene Symbol: TAGLN;PCSK7;LOC100652768
TAGLN;PCSK7;LOC100652768
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs236918
rs236918
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C3541318
Disease:
Soluble Transferrin Receptor Measurement
C 0.700 GeneticVariation GWASCAT Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. 21149283 2011
dbSNP: rs508487
rs508487
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
dbSNP: rs508487
rs508487
Entrez Id: 6876;9159
Gene Symbol: TAGLN;PCSK7
TAGLN;PCSK7
CUI: C1168443
Disease:
Pseudocholinesterase Measurement
T 0.700 GeneticVariation GWASDB Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
dbSNP: rs236918
rs236918
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0023890
Disease:
Liver Cirrhosis
0.030 GeneticVariation BEFREE We evaluated the associations between the PNPLA3 (rs738409), RNF7 (rs16851720), MERTK (rs4374383) and PCSK7 (rs236918) variants and liver fibrosis and cirrhosis in a series of consecutive patients recruited at the Department of Gastroenterology, Lithuanian University of Health Sciences Hospital, during the period 2012-2015. 28338112 2017
dbSNP: rs236918
rs236918
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C1623038
Disease:
Cirrhosis
0.030 GeneticVariation BEFREE We evaluated the associations between the PNPLA3 (rs738409), RNF7 (rs16851720), MERTK (rs4374383) and PCSK7 (rs236918) variants and liver fibrosis and cirrhosis in a series of consecutive patients recruited at the Department of Gastroenterology, Lithuanian University of Health Sciences Hospital, during the period 2012-2015. 28338112 2017
dbSNP: rs236918
rs236918
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C1623038
Disease:
Cirrhosis
0.030 GeneticVariation BEFREE These findings confirm that PCSK7 rs236918 C allele is a risk factor for cirrhosis development in Italian patients with HFE-Hemochromatosis. 26868056 2016
dbSNP: rs236918
rs236918
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0023890
Disease:
Liver Cirrhosis
0.030 GeneticVariation BEFREE These findings confirm that PCSK7 rs236918 C allele is a risk factor for cirrhosis development in Italian patients with HFE-Hemochromatosis. 26868056 2016
dbSNP: rs236918
rs236918
Entrez Id: 9159
Gene Symbol: PCSK7
PCSK7
CUI: C0023890
Disease:
Liver Cirrhosis
0.030 GeneticVariation BEFREE PCSK7 variant rs236918</span> is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation. 24556216 2014