Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation 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 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. 22265715 2012
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. 22265715 2012
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. 22265715 2012
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. 22265715 2012
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. 22265715 2012
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. 22265715 2012
dbSNP: rs1045274
rs1045274
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0027051
Disease:
Myocardial Infarction 		0.700 GeneticVariation GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. 11418246 2001
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. 11418246 2001
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. 11418246 2001
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. 11418246 2001
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. 11418246 2001
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. 11418246 2001
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. 10373468 1999
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. 10373468 1999
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. 10373468 1999
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. 10373468 1999
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. 10373468 1999
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. 10373468 1999
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. 9729469 1998
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. 9729469 1998
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. 9463366 1998
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. 9463366 1998
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. 9729469 1998