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
AutG199920C1orf168 - 1 57254697 G A 0 0 0 0 1 0 1
AutG261734NPHP4 - 1 5965455 C T 0 0 0 0 1 0 1
AutG4774NFIA - 1 61762918 G - 0 0 0 0 1 0 1
AutG4774NFIA - 1 61989854 - T 0 0 0 0 1 0 1
AutG10207INADL - 1 62582847 C G 0 0 0 0 1 0 1
AutG84455EFCAB7 - 1 64011657 A G 0 0 0 0 1 0 1
AutG200132TCTEX1D1 - 1 67242971 G A 0 0 0 0 1 0 1
AutG257194NEGR1 - 1 72254121 T A 0 0 0 0 1 0 1
AutG23261CAMTA1 - 1 7811441 - - 0 0 0 0 1 0 1 Positive
AutGADGRL4 - 1 79757925 G A 0 0 0 0 1 0 1
AutG148398SAMD11 - 1 877523 - - 0 0 0 0 1 0 1 Negative
AutGLINC01364 - 1 88285968 T G 0 0 0 0 1 0 1
AutGLINC01364 - 1 88952754 C G 0 0 0 0 1 0 1
AutG8317CDC7 - 1 91977407 C T 0 0 0 0 1 0 1 Positive
AutG24ABCA4 - 1 94512565 C T 0 0 0 0 1 0 1
AutG58155PTBP2 - 1 97463568 GGGTAC A 0 0 0 0 1 0 1
AutG79803HPS6 - 10 103825865 G A 0 0 0 0 1 0 1
AutG23082PPRC1 - 10 103907055 C T 0 0 0 0 1 0 1
AutG22984PDCD11 - 10 105202091 G T 0 0 0 0 1 0 1
AutGLOC101927523 - 10 106334353 T C 0 0 0 0 1 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