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
AutG167838TXLNB - 6 139598062 T A 0 0 0 0 1 0 1
AutG100500879MIR3668 - 6 140640283 T G 0 0 0 0 1 0 1
AutG7402UTRN - 6 144811319 A G 0 0 0 0 1 0 1
AutG7402UTRN - 6 144854342 G A 0 0 0 0 1 0 1
AutG84085FBXO30 - 6 146121343 C G 0 0 0 0 1 0 1
AutG84085FBXO30 - 6 146126163 G A 0 0 0 0 1 0 1
AutG134957STXBP5 - 6 147635108 C G 0 0 0 0 1 0 1
AutG134957STXBP5 - 6 147636753 A G 0 0 0 0 1 0 1
AutG23328SASH1 - 6 148865690 C A 0 0 0 0 1 0 1
AutG23345SYNE1 - 6 152779933 G A 0 0 0 0 1 0 1
AutG54516MTRF1L - 6 153330710 T C 0 0 0 0 1 0 1
AutG3720JARID2 - 6 15496930 C T 0 0 0 0 1 0 1
AutG100302259MIR1202 - 6 156350570 G - 0 0 0 0 1 0 1
AutG4216MAP3K4 - 6 161470544 T G 0 0 0 0 1 0 1
AutG4216MAP3K4 - 6 161508880 - - 0 0 0 0 1 0 1 Negative
AutG4216MAP3K4 - 6 161508880 A C 0 0 0 0 1 0 1
AutG168090C6orf118 - 6 165715177 G A 0 0 0 0 1 0 1
AutG83887TTLL2 - 6 167753792 A G 0 0 0 0 1 0 1
AutG83887TTLL2 - 6 167754551 A G 0 0 0 0 1 0 1
AutG84498FAM120B - 6 170627656 C G 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