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
AutG57194ATP10Crs1444622 1 26012419 C C 0 2 0 0 0 0 2 Negative
AutG5649RELNrs144525 - - - - 0 2 0 0 0 0 2 Positive
AutG121278TPH2rs1487278 1 72400851 T C 0 2 0 0 0 0 2 Negative
AutG121278TPH2rs1487280 1 72418827 C A 0 2 0 0 0 0 2 Negative
AutG5053PAHrs1522307 1 103298517 A C 0 2 0 0 0 0 2 Negative
AutG6804STX1Ars1569061 - - - - 0 2 0 0 0 0 2 Negative
AutG27185DISC1rs1630250 - - - - 0 2 0 0 0 0 2 Positive
AutG27185DISC1rs1655285 - - - - 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs16858996 2 171719102 A A 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs16859788 4 46972009 A A 0 2 0 0 0 0 2 Positive
AutG5579PRKCBrs169143 1 24137448 A A 0 2 0 0 0 0 2 Positive
AutG1747DLX3rs16948563 1 48065141 G A 0 2 0 0 0 0 2 Negative
AutG2557GABRA4rs17599102 4 46928834 C C 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs17599165 4 46940215 T A 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs17599416 4 46973438 A A 0 2 0 0 0 0 2 Positive
AutG1749DLX5rs17600042 - - - - 0 2 0 0 0 0 2 Positive
AutG1750DLX6rs17657924 - - - - 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs17701824 2 171719246 C C 0 2 0 0 0 0 2 Positive
AutG5053PAHrs1801153 1 103232766 C A 0 2 0 0 0 0 2 Negative
AutG4760NEUROD1rs1801262 2 182543455 T A 0 2 0 0 0 0 2 Negative

Page Counts: 543/584  
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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