Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747661902
rs747661902
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. 9729469 1998
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. 9463366 1998
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. 9729469 1998
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. 9463366 1998
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. 9729469 1998
dbSNP: rs766667249
rs766667249
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. 9463366 1998
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0000731
Disease:
Abdomen distended 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C2700617
Disease:
Irritation - emotion 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1839271
Disease:
Birth length greater than 97th percentile 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1848395
Disease:
Large for gestational age 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0341266
Disease:
Diverticulosis of the duodenum 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1840379
Disease:
Cerebellar vermis hypoplasia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0265529
Disease:
Plagiocephaly 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0235659
Disease:
Reduced fetal movement 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1859236
Disease:
Prolonged neonatal jaundice 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1829460
Disease:
Tongue thrusting 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C4023342
Disease:
Gastrostomy tube feeding in infancy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0042580
Disease:
Vesico-Ureteral Reflux 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0232466
Disease:
Feeding difficulties 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0158986
Disease:
Neonatal hypoglycemia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0151611
Disease:
Electroencephalogram abnormal 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0011168
Disease:
Deglutition Disorders 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200661329
rs200661329
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1837142
Disease:
Poor suck 		A 0.700 GeneticVariation CLINVAR