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
AutG22999RIMS1 - 6 72975162 C A/C 0 0 1 0 0 0 1
AutG22999RIMS1 - 6 73102488 C CA 0 0 1 0 0 0 1
AutG25821MTO1 - 6 74192157 T G 0 0 1 0 0 0 1
AutG135228CD109 - 6 74440138 CTCTAATAGT C 0 0 1 0 0 0 1
AutG1303COL12A1 - 6 75843100 C G 0 0 1 0 0 0 1 Positive
AutG1303COL12A1 - 6 75875492 C Y 0 0 1 0 0 0 1
AutG26054SENP6 - 6 76412395 G A 0 0 1 0 0 0 1 Positive
AutG4646MYO6 - 6 76527291 G A 0 0 1 0 0 0 1
AutG3351HTR1B - 6 78867905 T A 0 0 1 0 0 0 1
AutG55023PHIP - 6 79650574 TTC T 0 0 1 0 0 0 1
AutG55023PHIP - 6 79725374 - T 0 0 1 0 0 0 1
AutG55023PHIP - 6 79735235 CTTTAT C 0 0 1 0 0 0 1
AutG7272TTK - 6 80721204 C T 0 0 1 0 0 0 1
AutG594BCKDHB - 6 81425856 G C 0 0 1 0 0 0 1
AutG7162TPBG - 6 83075603 C A 0 0 1 0 0 0 1 Positive
AutG4199ME1 - 6 83921732 T A 0 0 1 0 0 0 1
AutG57231SNX14 - 6 86303351 G C 0 0 1 0 0 0 1 Positive
AutG23036ZNF292 - 6 87965835 G GATCAC 0 0 1 0 0 0 1
AutG10559SLC35A1 - 6 88210320 G T 0 0 1 0 0 0 1 Positive
AutG55122AKIRIN2 - 6 88385638 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