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
AutG10048RANBP9 - 6 13711321 G A 0 0 1 0 0 0 1
AutG3720JARID2 - 6 15374368 G A 0 0 1 0 0 0 1
AutG3720JARID2 - 6 15504762 G A 0 0 1 0 0 0 1
AutG3720JARID2 - 6 15517480 TGATGTACC T 0 0 1 0 0 0 1
AutG51439FAM8A1 - 6 17605188 C G 0 0 1 0 0 0 1 Positive
AutG51439FAM8A1 - 6 17606162 C T 0 0 1 0 0 0 1
AutG51439FAM8A1 - 6 17610527 A C 0 0 1 0 0 0 1
AutG221656KDM1B - 6 18171678 C T 0 0 1 0 0 0 1
AutG2822GPLD1 - 6 24436916 C A 0 0 1 0 0 0 1 Positive
AutG7915ALDH5A1 - 6 24523086 G A 0 0 1 0 0 0 1
AutG9856KIAA0319 - 6 24564464 C Y 0 0 1 0 0 0 1
AutG55604LRRC16A - 6 25479874 A G 0 0 1 0 0 0 1
AutG10786SLC17A3 - 6 25862544 A G 0 0 1 0 0 0 1
AutG3013HIST1H2AD - 6 26199346 C T 0 0 1 0 0 0 1
AutG8367HIST1H4E - 6 26204974 C T 0 0 1 0 0 0 1
AutG3012HIST1H2AE - 6 26217336 G S 0 0 1 0 0 0 1
AutG8355HIST1H3G - 6 26271503 T C 0 0 1 0 0 0 1 Positive
AutG8355HIST1H3G - 6 26271590 G A 0 0 1 0 0 0 1 Positive
AutG11119BTN3A1 - 6 26413449 G A 0 0 1 0 0 0 1
AutGBTN2A3P - 6 26422389 C T 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