Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0235991
Disease:
Small for gestational age (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0014877
Disease:
Esotropia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0576093
Disease:
Knee joint valgus deformity 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0454641
Disease:
Expressive language delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0265660
Disease:
Syndactyly of the toes 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0423110
Disease:
Downward slant of palpebral fissure 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0003635
Disease:
Apraxias 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0016202
Disease:
Flatfoot 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C4082304
Disease:
Oligodontia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C1837404
Disease:
High, narrow palate 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0520679
Disease:
Sleep Apnea, Obstructive 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0004106
Disease:
Astigmatism 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs767529359
rs767529359
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C4014435
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs864321694
rs864321694
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C4014435
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		C 0.700 CausalMutation CLINVAR
dbSNP: rs869312878
rs869312878
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C4014435
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs869312878
rs869312878
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0338502
Disease:
Hypoplasia of the optic nerve 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs869312878
rs869312878
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C1836830
Disease:
Developmental regression 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs734930
rs734930
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C1847835
Disease:
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 GeneticVariation BEFREE Three susceptibility signals, represented by single-nucleotide polymorphisms (SNPs) rs6960920 in 7p13, rs734930 in 7q11, and rs4744411 in 9q22, were significantly associated with vitiligo and other autoimmune diseases. 19727120 2010
dbSNP: rs734930
rs734930
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0004364
Disease:
Autoimmune Diseases 		0.010 GeneticVariation BEFREE Three susceptibility signals, represented by single-nucleotide polymorphisms (SNPs) rs6960920 in 7p13, rs734930 in 7q11, and rs4744411 in 9q22, were significantly associated with vitiligo and other autoimmune diseases. 19727120 2010
dbSNP: rs734930
rs734930
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0042900
Disease:
Vitiligo 		0.010 GeneticVariation BEFREE Three susceptibility signals, represented by single-nucleotide polymorphisms (SNPs) rs6960920 in 7p13, rs734930 in 7q11, and rs4744411 in 9q22, were significantly associated with vitiligo and other autoimmune diseases. 19727120 2010
dbSNP: rs6943555
rs6943555
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0001948
Disease:
Alcohol consumption 		A 0.800 GeneticVariation GWASCAT SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 × 10(-8) to P = 4 × 10(-9)). 21471458 2011
dbSNP: rs6943555
rs6943555
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0001948
Disease:
Alcohol consumption 		A 0.800 GeneticVariation GWASDB SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 × 10(-8) to P = 4 × 10(-9)). 21471458 2011
dbSNP: rs6943555
rs6943555
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0019337
Disease:
Heroin Dependence 		0.020 GeneticVariation BEFREE We compared the AUTS2 transcript level of LCL between 124 heroin dependent males and 116 control males using real-time quantitative PCR, and conducted a genetic association study of the rs6943555 of AUTS2 with heroin dependence using a sample of 546 heroin dependent males and 373 control males. 22995765 2013
dbSNP: rs11766624
rs11766624
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0162701
Disease:
Polysomnography 		G 0.700 GeneticVariation GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
dbSNP: rs11766624
rs11766624
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C2734068
Disease:
Arm span 		G 0.700 GeneticVariation GWASCAT Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012