Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs6943555
rs6943555
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.020 GeneticVariation BEFREE This suggests that the rs6943555 and rs9886351 A-A haplotype might affect the vulnerability to alcohol dependence pathogenesis. 26763194 2016
dbSNP: rs6943555
rs6943555
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.020 GeneticVariation BEFREE In addition, our previous study reported that the <i>AUTS2</i> rs6943555-rs9886351 haplotype is associated with alcohol dependence. 29042895 2017
dbSNP: rs6943555
rs6943555
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0019337
Disease:
Heroin Dependence
0.020 GeneticVariation BEFREE Our results confirmed that, in addition to heroin consumption, the SNP rs6943555 of AUTS2 may also play an important role in the etiology of heroin dependence. 25398668 2014
dbSNP: rs9886351
rs9886351
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.020 GeneticVariation BEFREE In addition, our previous study reported that the <i>AUTS2</i> rs6943555-rs9886351 haplotype is associated with alcohol dependence. 29042895 2017
dbSNP: rs9886351
rs9886351
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.020 GeneticVariation BEFREE This suggests that the rs6943555 and rs9886351 A-A haplotype might affect the vulnerability to alcohol dependence pathogenesis. 26763194 2016
dbSNP: rs11764092
rs11764092
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0549410
Disease:
Palmar-plantar erythrodysesthesia syndrome
0.010 GeneticVariation BEFREE A genome-wide association study did not identify any associations with PPES meeting the genome-wide significance threshold, but top variants were enriched for skin expression quantitative trait loci, including rs11764092 in AUTS2 (P = 6.45 × 10<sup>-5</sup> ). 28493546 2017
dbSNP: rs2270162
rs2270162
Entrez Id: 26053;100507468
Gene Symbol: AUTS2;CT66
AUTS2;CT66
CUI: C0019337
Disease:
Heroin Dependence
0.010 GeneticVariation BEFREE The potential association between heroin dependence and 21 SNPs (rs2270162, rs2851510, rs513150, rs595681, rs210606, rs10237984, rs13228123, rs10235781, rs6969375, rs6943555, rs10251416, rs17141963, rs12669427, rs723340, rs2293507, rs2293508, rs6960426, rs9886351, rs2293501, rs10277450, rs1918425) of AUTS2 was examined in a Chinese Han population using the MassARRAY system. 25398668 2014
dbSNP: rs6943555
rs6943555
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Our results confirm previous reports which have suggested that rs6943555 might elucidate the pathogenesis of schizophrenia and play an important role in its etiology. 25347278 2014
dbSNP: rs6943555
rs6943555
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0852733
Disease:
Completed Suicide
0.010 GeneticVariation BEFREE We hypothesized that rs6943555 might be associated with completed suicide. 23437340 2013
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: rs7785360
rs7785360
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0019569
Disease:
Hirschsprung Disease
0.010 GeneticVariation BEFREE We also tried to replicate the most prominent signal (rs7785360) in AUTS2, which was a potential susceptibility gene with HSCR. 29377512 2018
dbSNP: rs9886351
rs9886351
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE In the present study, three polymorphisms (rs6943555, rs7459368, and rs9886351) in the AUTS2 gene were genotyped in 410 patients with SCZ and 435 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and forced PCR-RFLP methods. 25347278 2014
dbSNP: rs1554401434
rs1554401434
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C4014435
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
ACGCCC 0.700 CausalMutation CLINVAR
dbSNP: rs1554480537
rs1554480537
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C4014435
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
T 0.700 CausalMutation CLINVAR
dbSNP: rs1563183469
rs1563183469
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0000772
Disease:
Multiple congenital anomalies
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183469
rs1563183469
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C4014435
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183469
rs1563183469
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0175754
Disease:
Agenesis of corpus callosum
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0020505
Disease:
Hyperphagia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0549629
Disease:
Abnormal delivery
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0454642
Disease:
Receptive language delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C1843367
Disease:
Poor school performance
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1563183492
rs1563183492
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C4054546
Disease:
Melanocortin 4 Receptor Deficiency
T 0.700 GeneticVariation CLINVAR