Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223352
rs863223352
Entrez Id: 9146;339231
Gene Symbol: HGS;ARL16
HGS;ARL16
CUI: C0036346
Disease:
Schizophrenia, Childhood
A 0.700 GeneticVariation CLINVAR De novo variants in sporadic cases of childhood onset schizophrenia. 26508570 2016
dbSNP: rs8070488
rs8070488
Entrez Id: 9146
Gene Symbol: HGS
HGS
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE Significant associations were observed with multiple previously identified AMD risk loci and 2 novel genes: HGS (peak SNP rs8070488, MAF = 0.23, OR = 0.91, p = 7.52 × 10(-5)), which plays a role in the clathrin-mediated endocytosis signaling pathway, and TNF (peak SNP rs2071590, MAF = 0.34, OR = 0.89, p = 1.17 × 10(-5)), which is a member of the atherosclerosis signaling and the LXR/RXR activation pathways. 24439028 2014
dbSNP: rs8070488
rs8070488
Entrez Id: 9146
Gene Symbol: HGS
HGS
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Significant associations were observed with multiple previously identified AMD risk loci and 2 novel genes: HGS (peak SNP rs8070488, MAF = 0.23, OR = 0.91, p = 7.52 × 10(-5)), which plays a role in the clathrin-mediated endocytosis signaling pathway, and TNF (peak SNP rs2071590, MAF = 0.34, OR = 0.89, p = 1.17 × 10(-5)), which is a member of the atherosclerosis signaling and the LXR/RXR activation pathways. 24439028 2014
dbSNP: rs8070488
rs8070488
Entrez Id: 9146
Gene Symbol: HGS
HGS
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE Significant associations were observed with multiple previously identified AMD risk loci and 2 novel genes: HGS (peak SNP rs8070488, MAF = 0.23, OR = 0.91, p = 7.52 × 10(-5)), which plays a role in the clathrin-mediated endocytosis signaling pathway, and TNF (peak SNP rs2071590, MAF = 0.34, OR = 0.89, p = 1.17 × 10(-5)), which is a member of the atherosclerosis signaling and the LXR/RXR activation pathways. 24439028 2014