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
AutG54806AHI1 - 6 135640595 G C 0 0 1 0 0 0 1
AutG54806AHI1 - 6 135754219 G T 0 0 1 0 0 0 1
AutG54806AHI1 - 6 135774505 G A 0 0 1 0 0 0 1 Positive
AutG9774BCLAF1 - 6 136582483 G C 0 0 1 0 0 0 1 Positive
AutG9053MAP7 - 6 136682268 G T 0 0 1 0 0 0 1 Positive
AutG4217MAP3K5 - 6 137015334 A G 0 0 1 0 0 0 1
AutG64065PERP - 6 138428392 G C 0 0 1 0 0 0 1 Positive
AutG345930ECT2L - 6 139159666 A G 0 0 1 0 0 0 1
AutG100616180MIR4465 - 6 142134818 A G 0 0 1 0 0 0 1
AutG3097HIVEP2 - 6 143094725 G A 0 0 1 0 0 0 1 Positive
AutG9749PHACTR2 - 6 144033170 GCTT G 0 0 1 0 0 0 1
AutG7402UTRN - 6 144747566 C T 0 0 1 0 0 0 1
AutG7402UTRN - 6 145079042 A G 0 0 1 0 0 0 1
AutG257218SHPRH - 6 146266701 T C 0 0 1 0 0 0 1 Positive
AutG134957STXBP5 - 6 147635412 A G 0 0 1 0 0 0 1
AutG134957STXBP5 - 6 147680342 TC T 0 0 1 0 0 0 1
AutG23328SASH1 - 6 148711366 C T 0 0 1 0 0 0 1 Positive
AutG5110PCMT1 - 6 150123528 CTCTT C 0 0 1 0 0 0 1
AutG84918LRP11 - 6 150164130 T G 0 0 1 0 0 0 1
AutG57480PLEKHG1 - 6 151151887 G A 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