Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56141211
rs56141211
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C3805373
Disease:
CATARACT 13 WITH ADULT i PHENOTYPE 		0.800 GeneticVariation UNIPROT Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. 11739194 2001
dbSNP: rs55940927
rs55940927
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C3805373
Disease:
CATARACT 13 WITH ADULT i PHENOTYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs55940927
rs55940927
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C3805373
Disease:
CATARACT 13 WITH ADULT i PHENOTYPE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs56141211
rs56141211
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C3805373
Disease:
CATARACT 13 WITH ADULT i PHENOTYPE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs504117
rs504117
Entrez Id: 2651;101928146
Gene Symbol: GCNT2;LOC101928146
GCNT2;LOC101928146
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs191578361
rs191578361
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0424678
Disease:
Lean body mass 		A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs605783
rs605783
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0750880
Disease:
Monocyte count result 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs605783
rs605783
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0200637
Disease:
Monocyte count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1114167313
rs1114167313
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0009691
Disease:
Congenital cataract 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1114167314
rs1114167314
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0009691
Disease:
Congenital cataract 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1184095219
rs1184095219
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C3805373
Disease:
CATARACT 13 WITH ADULT i PHENOTYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs949335475
rs949335475
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C3805373
Disease:
CATARACT 13 WITH ADULT i PHENOTYPE 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs777441702
rs777441702
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0086543
Disease:
Cataract 		0.010 GeneticVariation BEFREE In the family with the "ii" blood group we found a novel GCNT2 mutation c.G935A (p.G312D) in the cataract patients, while in the family with hyperferritinemia cataract syndrome we identified a G→C heterozygous mutation at position +32 of FTL. 21541272 2011
dbSNP: rs777441702
rs777441702
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C1833213
Disease:
Hyperferritinemia, hereditary, with congenital cataracts 		0.010 GeneticVariation BEFREE In the family with the "ii" blood group we found a novel GCNT2 mutation c.G935A (p.G312D) in the cataract patients, while in the family with hyperferritinemia cataract syndrome we identified a G→C heterozygous mutation at position +32 of FTL. 21541272 2011
dbSNP: rs201291494
rs201291494
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0009691
Disease:
Congenital cataract 		0.010 GeneticVariation BEFREE A novel IGnTC allele with a 243T>A missense mutation was demonstrated in our adult i Taiwanese without congenital cataracts. 17076854 2006