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
AutG84059ADGRV1 - 5 90074209 G A 0 0 0 1 0 0 1
AutG5066PAM - 5 102295584 C G 0 0 0 1 0 0 1 Positive
AutG64097EPB41L4A - 5 111506680 G A 0 0 0 1 0 0 1
AutG3781KCNN2 - 5 113698851 C T 0 0 0 1 0 0 1
AutG9627SNCAIP - 5 121761186 G A 0 0 0 1 0 0 1 Positive
- 5 135369385 G A 0 0 0 1 0 0 1
AutG83697SLC4A9 - 5 139750705 G A 0 0 0 1 0 0 1 Positive
AutG56146PCDHA2 - 5 140175208 C A 0 0 0 1 0 0 1 Positive
AutG56129PCDHB7 - 5 140554718 A G 0 0 0 1 0 0 1
AutG56128PCDHB8 - 5 140558933 G C 0 0 0 1 0 0 1
AutG54439RBM27 - 5 145603023 C T 0 0 0 1 0 0 1 Positive
AutG153469JAKMIP2-AS1 - 5 147021187 A T 0 0 0 1 0 0 1
AutG3340NDST1 - 5 149912558 T C 0 0 0 1 0 0 1 Positive
AutG51164DCTN4 - 5 150095135 G A 0 0 0 1 0 0 1
AutG309ANXA6 - 5 150509024 C T 0 0 0 1 0 0 1
AutG10146G3BP1 - 5 151166215 G A 0 0 0 1 0 0 1
AutG2566GABRG2 - 5 161522685 G A 0 0 0 1 0 0 1
AutG2566GABRG2 - 5 161524765 C T 0 0 0 1 0 0 1 Positive
AutG6586SLIT3 - 5 168678421 G A 0 0 0 1 0 0 1
AutG23291FBXW11 - 5 171326970 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