Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7169055
rs7169055
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs7169055
rs7169055
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs191299947
rs191299947
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C0016529
Disease:
Forced expiratory volume function
A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs5000770
rs5000770
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C0848558
Disease:
Hypospadias
0.020 GeneticVariation BEFREE The effect of single-nucleotide polymorphism rs5000770 (G>A), located within the aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) locus, on individual sensitivity to low-dose BPA was investigated in the HS group. 23285176 2012
dbSNP: rs5000770
rs5000770
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C1691215
Disease:
Penile hypospadias
0.020 GeneticVariation BEFREE In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population. 22648180 2012
dbSNP: rs5000770
rs5000770
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C1691215
Disease:
Penile hypospadias
0.020 GeneticVariation BEFREE The effect of single-nucleotide polymorphism rs5000770 (G>A), located within the aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) locus, on individual sensitivity to low-dose BPA was investigated in the HS group. 23285176 2012
dbSNP: rs5000770
rs5000770
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C0848558
Disease:
Hypospadias
0.020 GeneticVariation BEFREE In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population. 22648180 2012
dbSNP: rs1020397
rs1020397
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C0010417
Disease:
Cryptorchidism
0.010 GeneticVariation BEFREE In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population. 22648180 2012
dbSNP: rs1020397
rs1020397
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C0848558
Disease:
Hypospadias
0.010 GeneticVariation BEFREE In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population. 22648180 2012
dbSNP: rs1020397
rs1020397
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C1691215
Disease:
Penile hypospadias
0.010 GeneticVariation BEFREE In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population. 22648180 2012
dbSNP: rs5000770
rs5000770
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
CUI: C0010417
Disease:
Cryptorchidism
0.010 GeneticVariation BEFREE In a combined analysis of JPN and ITA population, the most significant multi-locus association was observed between rs5000770 and rs3757824, which had 65.70% prediction accuracy for CO (P=0.055). 22648180 2012