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
AutG63982ANO3 - 11 26460086 - - 0 0 0 0 1 0 1 Positive
AutG6240RRM1 - 11 4112218 - - 0 0 0 0 1 0 1 Positive
AutG59341TRPV4 - 12 110240934 - C 0 0 0 0 1 0 1 Positive
AutG196385DNAH10 - 12 124333343 C T 0 0 0 0 1 0 1 Positive
AutG28234SLCO1B3 - 12 21008080 - AATTG 0 0 0 0 1 0 1 Positive
AutG28234SLCO1B3 - 12 21054330 AT - 0 0 0 0 1 0 1 Positive
AutG283316CD163L1 - 12 7528295 C T 0 0 0 0 1 0 1 Positive
AutG10804GJB6 - 13 20796930 - T 0 0 0 0 1 0 1 Positive
AutG116442RAB39B - 15 154490171 C A 0 0 0 0 1 0 1 Positive
AutG7337UBE3A - 15 25601941 G - 0 0 0 0 1 0 1 Positive
AutG342132ZNF774 - 15 90904361 GTCCTGAGTGTGGCAA - 0 0 0 0 1 0 1 Positive
AutG55813UTP6 - 17 30205771 A - 0 0 0 0 1 0 1 Positive
AutG192666KRT24 - 17 38859816 G A 0 0 0 0 1 0 1 Positive
AutG57674RNF213 - 17 78242045 - - 0 0 0 0 1 0 1 Positive
AutG57534MIB1 - 18 19437142 G - 0 0 0 0 1 0 1 Positive
AutG83473KATNAL2 - 18 44584646 C T 0 0 0 0 1 0 1 Positive
AutG5605MAP2K2 - 19 4101143 T C 0 0 0 0 1 0 1 Positive
AutG6253RTN2 - 19 45996512 A - 0 0 0 0 1 0 1 Positive
AutG79784MYH14 - 19 50752252 C - 0 0 0 0 1 0 1 Positive
AutG84527ZNF559 - 19 9453330 GACTCATCCT - 0 0 0 0 1 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