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
AutG154664ABCA13 - 7 48335416 C T 0 0 1 0 0 0 1
AutG10320IKZF1 - 7 50467738 G C 0 0 1 0 0 0 1
AutG2887GRB10 - 7 50694583 G A 0 0 1 0 0 0 1
AutG23242COBL - 7 51287624 C G 0 0 1 0 0 0 1 Positive
AutG25870SUMF2 - 7 56144465 CT C 0 0 1 0 0 0 1
AutG7697ZNF138 - 7 64292065 C T 0 0 1 0 0 0 1
AutGERV3-1 - 7 64452895 C Y 0 0 1 0 0 0 1
AutG154807VKORC1L1 - 7 65419074 C Y 0 0 1 0 0 0 1
AutG435ASL - 7 65547355 G A 0 0 1 0 0 0 1 Positive
AutG51119SBDS - 7 66459316 G A 0 0 1 0 0 0 1
AutG64940STAG3L4 - 7 68736637 G T 0 0 1 0 0 0 1
AutG26053AUTS2 - 7 70255088 C T 0 0 1 0 0 0 1
AutG64409WBSCR17 - 7 71130393 T C 0 0 1 0 0 0 1
AutG64409WBSCR17 - 7 71130575 G A 0 0 1 0 0 0 1
AutG9883POM121 - 7 72419008 G C 0 0 1 0 0 0 1
AutG8468FKBP6 - 7 72754789 G T 0 0 1 0 0 0 1
AutG9031BAZ1B - 7 72892108 T A 0 0 1 0 0 0 1 Positive
AutG3984LIMK1 - 7 73513559 G A 0 0 1 0 0 0 1 Positive
AutG9569GTF2IRD1 - 7 73969529 A G 0 0 1 0 0 0 1
AutG100101267POM121C - 7 75052242 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