Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6570507
rs6570507
ADGRG6
0.800 GeneticVariation GWASCAT Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. 23666238

2013
dbSNP: rs6570507
rs6570507
ADGRG6
0.800 GeneticVariation GWASDB Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. 23666238

2013
dbSNP: rs11190870
rs11190870 		0.800 GeneticVariation GWASCAT A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. 22019779

2011
dbSNP: rs11190870
rs11190870 		0.800 GeneticVariation GWASDB A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. 22019779

2011
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
A 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
T 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561898352
rs1561898352
CUL7 ; KLC4
CA 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1553403917
rs1553403917
ALMS1
CA 0.700 CausalMutation CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548

2018
dbSNP: rs1114167445
rs1114167445
SPTBN4
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017
dbSNP: rs1555682265
rs1555682265
DCC
T 0.700 CausalMutation CLINVAR Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456

2017
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687

2017
dbSNP: rs797045164
rs797045164
KIF1A
A 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288

2016
dbSNP: rs202193096
rs202193096
TBX6
A 0.700 GeneticVariation CLINVAR TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734

2015
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 GeneticVariation CLINVAR Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. 24789864

2014
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 GeneticVariation CLINVAR Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953

2012
dbSNP: rs431905504
rs431905504
SLC6A3
T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012
dbSNP: rs10510181
rs10510181
CHL1-AS2
A 0.700 GeneticVariation GWASCAT Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. 21216876

2011
dbSNP: rs11598177
rs11598177 		0.700 GeneticVariation GWASDB A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. 22019779

2011
dbSNP: rs12432469
rs12432469
LINC02294 ; LINC02293
0.700 GeneticVariation GWASDB Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. 21216876

2011
dbSNP: rs12432472
rs12432472
LINC02294 ; LINC02293
0.700 GeneticVariation GWASDB Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. 21216876

2011
dbSNP: rs1322330
rs1322330
LBX1-AS1
0.700 GeneticVariation GWASDB A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. 22019779

2011
dbSNP: rs1322331
rs1322331
LBX1
0.700 GeneticVariation GWASDB A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. 22019779

2011
dbSNP: rs1322332
rs1322332 		0.700 GeneticVariation GWASDB A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. 22019779

2011
dbSNP: rs1400180
rs1400180
CHL1-AS2 ; LOC107986057
0.700 GeneticVariation GWASDB Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. 21216876

2011