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
AutG4010LMX1Brs10760450 9 129459628 C C 0 1 0 0 0 0 1 Positive
-rs10779402 - - - - 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs10779414 - - - - 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs1078749 3 179143941 A C 0 1 0 0 0 0 1 Positive
AutG1813DRD2rs1079597 1 113296286 C A 0 1 0 0 0 0 1 Positive
AutG952CD38rs10805347 4 15840839 A A 0 1 0 0 0 0 1 Negative
AutG3084NRG1rs1081062 8 31500264 G C 0 1 0 0 0 0 1
AutG4010LMX1Brs10819190 9 129408513 G A 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs10819194 9 129422023 G A 0 1 0 0 0 0 1 Positive
-rs10830962 1 92698427 C C 0 1 0 0 0 0 1 Negative
AutG4544MTNR1Brs10830963 1 92708710 C C 0 1 0 0 0 0 1 Negative
AutG25782RAB3GAP2rs10863534 - - - - 0 1 0 0 0 0 1 Positive
AutG27185DISC1rs10864698 - - - - 0 1 0 0 0 0 1 Positive
AutG6667SP1rs10876447 1 53770941 G A 0 1 0 0 0 0 1 Negative
AutG6667SP1rs10876450 1 53811034 T C 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs10889048 1 58003035 G A 0 1 0 0 0 0 1 Positive
AutG7173TPOrs10890518 2 1435203 G A 0 1 0 0 0 0 1 Positive
AutG55740ENAHrs10915846 - - - - 0 1 0 0 0 0 1 Negative
-rs10916619 - - - - 0 1 0 0 0 0 1 Negative
AutG27347STK39rs10930310 2 169049741 G A 0 1 0 0 0 0 1 Positive

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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