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
AutG202299C5orf27 - 5 95194642 G C 0 0 0 0 1 0 1
AutG285692LOC285692 - 5 9694152 A G 0 0 0 0 1 0 1
AutG102546227LINC01340 - 5 97029959 - T 0 0 0 0 1 0 1
AutG6492SIM1 - 6 100904560 T - 0 0 0 0 1 0 1
AutG2898GRIK2 - 6 103846896 - A 0 0 0 0 1 0 1
AutG84816RTN4IP1 - 6 107040160 C A 0 0 0 0 1 0 1
AutG285755PPIL6 - 6 109714131 T G 0 0 0 0 1 0 1
AutG8936WASF1 - 6 110423393 G A 0 0 0 0 1 0 1
AutG262AMD1 - 6 111213937 G A 0 0 0 0 1 0 1
AutG2444FRK - 6 116325108 G A 0 0 0 0 1 0 1
AutG222545GPRC6A - 6 117113315 G A 0 0 0 0 1 0 1
AutG254394MCM9 - 6 119243203 C G 0 0 0 0 1 0 1
AutG3096HIVEP1 - 6 12163802 G A 0 0 0 0 1 0 1
AutG3908LAMA2 - 6 129513850 T A 0 0 0 0 1 0 1
AutG9439MED23 - 6 131948602 TTC T 0 0 0 0 1 0 1
AutG54806AHI1 - 6 135611614 C A 0 0 0 0 1 0 1 Positive
AutG54806AHI1 - 6 135644371 T C 0 0 0 0 1 0 1 Positive
AutG9774BCLAF1 - 6 136589298 T A 0 0 0 0 1 0 1
AutG85021REPS1 - 6 139265115 G A 0 0 0 0 1 0 1
AutG167838TXLNB - 6 139598010 G A 0 0 0 0 1 0 1

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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