rs12946942, None

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adolescent idiopathic scoliosis
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
0.810 GeneticVariation BEFREE A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis. 30787423 2019
Adolescent idiopathic scoliosis
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
0.810 GeneticVariation GWASDB Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. 24023777 2013
Adolescent idiopathic scoliosis
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
0.810 GeneticVariation GWASCAT Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. 24023777 2013
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
CUI: C2700406
Disease: SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
0.700 GeneticVariation GWASDB Through a two-stage association study using a total of ∼12,000 Japanese subjects, we identified a common variant, rs12946942 that showed a significant association with severe AIS in the recessive model (P=4.00 × 10(-8), odds ratio [OR]=2.05). 24023777 2013
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. 24023777 2013
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.020 GeneticVariation BEFREE Our previous GWAS has identified that rs12946942 showed significant association with severe AIS. 30787423 2019
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.020 GeneticVariation BEFREE Through a two-stage association study using a total of ∼12,000 Japanese subjects, we identified a common variant, rs12946942 that showed a significant association with severe AIS in the recessive model (P=4.00 × 10(-8), odds ratio [OR]=2.05). 24023777 2013