Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145303331
rs145303331
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		0.810 GeneticVariation BEFREE We report a CHIME</span> syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5' untranslated region and part of exon 1 of PIGL. 29473937 2019
dbSNP: rs7477
rs7477
Entrez Id: 9487;201161
Gene Symbol: PIGL;CENPV
PIGL;CENPV
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		A 0.810 GeneticVariation GWASCAT C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 24931836 2014
dbSNP: rs7477
rs7477
Entrez Id: 9487;201161
Gene Symbol: PIGL;CENPV
PIGL;CENPV
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		T 0.810 GeneticVariation GWASCAT Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)). 22959728 2013
dbSNP: rs7477
rs7477
Entrez Id: 9487;201161
Gene Symbol: PIGL;CENPV
PIGL;CENPV
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		T 0.810 GeneticVariation GWASDB Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)). 22959728 2013
dbSNP: rs7477
rs7477
Entrez Id: 9487;201161
Gene Symbol: PIGL;CENPV
PIGL;CENPV
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.810 GeneticVariation BEFREE Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)). 22959728 2013
dbSNP: rs145303331
rs145303331
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		0.810 GeneticVariation UNIPROT Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
dbSNP: rs145303331
rs145303331
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		C 0.810 CausalMutation CLINVAR Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
dbSNP: rs1029809
rs1029809
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs178785
rs178785
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4792728
rs4792728
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs35565381
rs35565381
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs12936529
rs12936529
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0200633
Disease:
Neutrophil count (procedure) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12936529
rs12936529
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0200638
Disease:
Eosinophil count procedure 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12936529
rs12936529
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0857490
Disease:
Granulocyte count 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs74267027
rs74267027
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0200633
Disease:
Neutrophil count (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs74267027
rs74267027
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0023508
Disease:
White Blood Cell Count procedure 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs74267027
rs74267027
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C0200641
Disease:
Blood basophil count (lab test) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs139004722
rs139004722
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs758633805
rs758633805
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs770084126
rs770084126
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		A 0.700 CausalMutation CLINVAR