Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11748619
rs11748619
Entrez Id: 9945
Gene Symbol: GFPT2
GFPT2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2303009
rs2303009
Entrez Id: 9945
Gene Symbol: GFPT2
GFPT2
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs6879260
rs6879260
Entrez Id: 9945
Gene Symbol: GFPT2
GFPT2
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs6879260
rs6879260
Entrez Id: 9945
Gene Symbol: GFPT2
GFPT2
CUI: C0489786
Disease:
Height 		T 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs193143625
rs193143625
Entrez Id: 9945
Gene Symbol: GFPT2
GFPT2
CUI: C0403823
Disease:
Asthenozoospermia 		0.010 GeneticVariation BEFREE Homozygosity of the GFPT2 p.Arg366Gln mutation was associated with increased levels of reactive oxygen species (ROS) in spermatozoa and decreased sperm motility. 30849544 2019
dbSNP: rs2303007
rs2303007
Entrez Id: 9945
Gene Symbol: GFPT2
GFPT2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE A single variant in exon 14, I471V, altered the amino acid sequence, is conserved between human and mouse genes, and was associated with T2DM among Caucasians (P = 0.05). 14764791 2004