Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4262946
rs4262946
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4262946
rs4262946
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949 2015
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949 2015
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949 2015
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949 2015
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949 2015
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949 2015
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103 2014
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103 2014
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103 2014
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103 2014
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103 2014
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103 2014