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
AutG55777MBD5 - 2 149227283 C G 0 0 1 0 0 0 1 Positive
AutG55183RIF1 - 2 152321326 G A 0 0 1 0 0 0 1
AutG4703NEB - 2 152403966 A G 0 0 1 0 0 0 1
AutG4703NEB - 2 152424685 T C 0 0 1 0 0 0 1 Positive
AutG4703NEB - 2 152548841 T A 0 0 1 0 0 0 1
AutG55660PRPF40A - 2 153528972 C T 0 0 1 0 0 0 1
AutG151188ARL6IP6 - 2 153575211 - - 0 0 1 0 0 0 1
AutG100144595LOC100144595 - 2 155332366 G A 0 0 1 0 0 0 1
AutG4929NR4A2 - 2 157185876 A R 0 0 1 0 0 0 1
AutG4929NR4A2 - 2 157186342 C A 0 0 1 0 0 0 1
AutG9595CYTIP - 2 158272559 C T 0 0 1 0 0 0 1
AutG90ACVR1 - 2 158622623 G A 0 0 1 0 0 0 1
AutG29994BAZ2B - 2 160182250 G GT 0 0 1 0 0 0 1
AutG29994BAZ2B - 2 160231217 A C 0 0 1 0 0 0 1
AutG29994BAZ2B - 2 160289731 G A 0 0 1 0 0 0 1
AutG10716TBR1 - 2 162273322 * -C/* 0 0 1 0 0 0 1
AutG10716TBR1 - 2 162273322 * 1D, -G 0 0 1 0 0 0 1
AutG10716TBR1 - 2 162273603 A G 0 0 1 0 0 0 1 Positive
AutG10716TBR1 - 2 162273603 A R 0 0 1 0 0 0 1 Positive
AutG10716TBR1 - 2 162275481 * +C/* 0 0 1 0 0 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