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
AutG9453GGPS1 - 1 235505485 G A 0 0 0 1 0 0 1
AutG1131CHRM3 - 1 240136378 G A 0 0 0 1 0 0 1
AutG200150PLD5 - 1 242383342 T C 0 0 0 1 0 0 1
AutG3192HNRNPU - 1 245027141 C G 0 0 0 1 0 0 1
AutG84288EFCAB2 - 1 245250572 G T 0 0 0 1 0 0 1
AutG23185LARP4B - 10 876865 TCA T 0 0 0 1 0 0 1
AutG55526DHTKD1 - 10 12139947 G T 0 0 0 1 0 0 1
AutG221060C10orf111 - 10 15138814 G A 0 0 0 1 0 0 1
AutG221074SLC39A12 - 10 18250538 T C 0 0 0 1 0 0 1
AutG57512GPR158 - 10 25510055 G T 0 0 0 1 0 0 1 Positive
AutG57512GPR158 - 10 25887707 A G 0 0 0 1 0 0 1
AutG94134ARHGAP12 - 10 32106768 T C 0 0 0 1 0 0 1 Positive
AutG57705WDFY4 - 10 49939237 A G 0 0 0 1 0 0 1
AutG118461C10orf71 - 10 50534797 G A 0 0 0 1 0 0 1
AutG282966C10orf53 - 10 50887799 T C 0 0 0 1 0 0 1 Positive
AutG653268AGAP7 - 10 51464755 C G 0 0 0 1 0 0 1
AutG29119CTNNA3 - 10 69366755 C G 0 0 0 1 0 0 1 Positive
AutG26091HERC4 - 10 69718925 G A 0 0 0 1 0 0 1
AutG3098HK1 - 10 71158430 G A 0 0 0 1 0 0 1 Positive
AutG5092PCBD1 - 10 72645520 G A 0 0 0 1 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