AutismKB 2.0

View SNVs/InDels


Entrez ID Gene Symbol SNP name Chr Position ref alt Evidence Number Total Number of Evidence Result
GWAS Low-Scale Genetic Association Studies NGS de novo Mutation Studies NGS Mosaic Mutation Studes NGS Other Studies Low-Scale Gene Studies
AutG2566GABRG2 - 5 161576159 G A 0 0 1 0 0 0 1 Positive
AutG3161HMMR - 5 162917425 T TA 0 0 1 0 0 0 1
AutGNONE - 5 165787451 A G 0 0 1 0 0 0 1
AutG57451ODZ2 - 5 167400871 A G 0 0 1 0 0 0 1
AutG23286WWC1 - 5 167797801 C T 0 0 1 0 0 0 1
AutG23286WWC1 - 5 167887718 C A 0 0 1 0 0 0 1
AutG6586SLIT3 - 5 168112800 G A 0 0 1 0 0 0 1
AutG6586SLIT3 - 5 168175351 - - 0 0 1 0 0 0 1
AutG1794DOCK2 - 5 169412870 C T 0 0 1 0 0 0 1
AutG2568GABRP - 5 170239115 G A 0 0 1 0 0 0 1
AutG64901RANBP17 - 5 170597192 C T 0 0 1 0 0 0 1
AutG64901RANBP17 - 5 170667997 ATC A 0 0 1 0 0 0 1
AutG64901RANBP17 - 5 170722942 C T 0 0 1 0 0 0 1
AutG23291FBXW11 - 5 171337706 G C 0 0 1 0 0 0 1
AutG57222ERGIC1 - 5 172315717 G A 0 0 1 0 0 0 1
AutG662BNIP1 - 5 172608287 G A 0 0 1 0 0 0 1
AutG10814CPLX2 - 5 175261745 C A 0 0 1 0 0 0 1
AutG10814CPLX2 - 5 175261746 G A 0 0 1 0 0 0 1
AutG192286HIGD2A - 5 175816383 G A 0 0 1 0 0 0 1
AutG23197FAF2 - 5 175921055 A G 0 0 1 0 0 0 1 Positive

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018