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
AutG4036LRP2 - 2 170062840 C T 0 0 1 0 0 0 1
AutG129880BBS5 - 2 170336053 C T 0 0 1 0 0 0 1
AutG130507UBR3 - 2 170732427 * complex, -AAA,+C 0 0 1 0 0 0 1
AutG130507UBR3 - 2 170732428 A C 0 0 1 0 0 0 1
AutG130507UBR3 - 2 170885884 C T 0 0 1 0 0 0 1
AutG100505695LOC100505695 - 2 171654840 C T 0 0 1 0 0 0 1
AutG2571GAD1 - 2 171704248 G R 0 0 1 0 0 0 1
AutG9874TLK1 - 2 171863055 A G 0 0 1 0 0 0 1 Positive
AutG11069RAPGEF4 - 2 173898693 G A 0 0 1 0 0 0 1
AutG83879CDCA7 - 2 174683395 G A 0 0 1 0 0 0 1
AutG6670SP3 - 2 174820528 C T 0 0 1 0 0 0 1
AutG1386ATF2 - 2 175976331 A G 0 0 1 0 0 0 1
AutG3231HOXD1 - 2 177054587 A AT 0 0 1 0 0 0 1
AutG50940PDE11A - 2 178494223 C T 0 0 1 0 0 0 1
AutG65977PLEKHA3 - 2 179358628 G A 0 0 1 0 0 0 1 Positive
AutG7273TTN - 2 179425280 C T 0 0 1 0 0 0 1 Positive
AutG7273TTN - 2 179428473 C T 0 0 1 0 0 0 1
AutG7273TTN - 2 179434864 C T 0 0 1 0 0 0 1 Positive
AutG7273TTN - 2 179435034 A G 0 0 1 0 0 0 1
AutG7273TTN - 2 179436520 C Y 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