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
AutG79718TBL1XR1 - 3 176767848 A T 0 0 0 0 0 1 1 Positive
AutG2669GEM - 8 95272549 G C 0 0 0 0 0 1 1 Positive
AutG23245ASTN2 - 9 119204756 - - 0 0 0 0 0 1 1 Positive
AutG22954TRIM32 - 9 119460622 - - 0 0 0 0 0 1 1 Positive
AutG23245ASTN2 - 9 119738454 - - 0 0 0 0 0 1 1 Positive
AutG23245ASTN2 - 9 119770434 - - 0 0 0 0 0 1 1 Positive
AutG23245ASTN2 - 9 119858397 - - 0 0 0 0 0 1 1 Positive
AutG23245ASTN2 - 9 119976883 - - 0 0 0 0 0 1 1 Positive
AutG57502NLGN4X - X 5821465_5821466 - - 0 0 0 0 0 1 1 Positive
AutG57502NLGN4X - X 6146223 C T 0 0 0 0 0 1 1 Positive
AutG51132RLIM - X 73812083 T C 0 0 0 0 0 1 1 Positive
AutG340533KIAA2022 - X 73877519-73877520 - - 0 0 0 0 0 1 1 Positive
AutG27185DISC1rs1000731 - - - - 0 2 0 0 0 0 2 Positive
AutG6804STX1Ars1001220 - - - - 0 2 0 0 0 0 2 Negative
AutG2560GABRB1rs10016388 4 47163630 A A 0 2 0 0 0 0 2 Negative
AutG2560GABRB1rs10028945 4 47428305 G A 0 2 0 0 0 0 2 Negative
AutG1750DLX6rs1005169 - - - - 0 2 0 0 0 0 2 Positive
AutG1745DLX1rs10186317 2 172955011 A A 0 2 0 0 0 0 2 Negative
AutG2571GAD1rs10191129 2 171688593 C C 0 2 0 0 0 0 2 Positive
AutG4233METrs10215153 - - - - 0 2 0 0 0 0 2 Positive

Page Counts: 540/584  
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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