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
AutG22913RALY - 20 32664866 G A 0 0 1 0 0 0 1
AutG83737ITCH - 20 33037307 A G 0 0 1 0 0 0 1
AutG23054NCOA6 - 20 33345644 G A 0 0 1 0 0 0 1
AutG2686GGT7 - 20 33449275 C A 0 0 1 0 0 0 1
AutG57644MYH7B - 20 33567509 C G 0 0 1 0 0 0 1
AutG57644MYH7B - 20 33578059 G A 0 0 1 0 0 0 1
AutG55245UQCC - 20 33969789 T C 0 0 1 0 0 0 1
AutG51614ERGIC3 - 20 34130278 A G 0 0 1 0 0 0 1 Positive
AutG10137RBM12 - 20 34240767 C G 0 0 1 0 0 0 1
AutG10137RBM12 - 20 34243229 G A 0 0 1 0 0 0 1
AutG9584RBM39 - 20 34309816 A G 0 0 1 0 0 0 1
AutG9584RBM39 - 20 34313085 G C 0 0 1 0 0 0 1
AutG2036EPB41L1 - 20 34765932 A G 0 0 1 0 0 0 1 Positive
AutG57446NDRG3 - 20 35350135 C T 0 0 1 0 0 0 1
AutG140699C20orf132 - 20 35788537 T G 0 0 1 0 0 0 1
AutG85449KIAA1755 - 20 36869368 C T 0 0 1 0 0 0 1
AutG57148RALGAPB - 20 37137843 CAT C 0 0 1 0 0 0 1
AutG57148RALGAPB - 20 37150314 A G 0 0 1 0 0 0 1 Positive
AutG57148RALGAPB - 20 37186988 G A 0 0 1 0 0 0 1
AutG79913ACTR5 - 20 37380784 A G 0 0 1 0 0 0 1 Positive

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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