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
AutG151531UPP2rs6437133 2 158964287 A A 2 0 0 0 0 0 2 Negative
rs6477233 9 7774774 T A 2 0 0 0 0 0 2 Positive
rs6517673 2 42892056 G A 2 0 0 0 0 0 2 Negative
rs6557675 8 23340546 C C 2 0 0 0 0 0 2 Positive
AutG8520HAT1rs6731562 2 172798262 T C 2 0 0 0 0 0 2 Negative
rs6828137 4 90059434 G G 2 0 0 0 0 0 2 Negative
rs6873221 5 25928566 G A 2 0 0 0 0 0 2 Positive
rs6879343 5 23056410 C C 2 0 0 0 0 0 2 Negative
rs6894838 5 25944946 T C 2 0 0 0 0 0 2 Positive
rs7136780 1 32197877 G G 2 0 0 0 0 0 2 Negative
AutG5527PPP2R5Crs7142002 1 102360745 T C 2 0 0 0 0 0 2 Negative
AutG79811SLTMrs7179456 1 59174539 G G 2 0 0 0 0 0 2 Negative
AutG8631SKAP1rs7218167 1 46394050 G A 2 0 0 0 0 0 2 Negative
rs7316376 1 32178900 G A 2 0 0 0 0 0 2 Negative
rs742731 2 18885738 G A 2 0 0 0 0 0 2 Negative
rs7447989 5 25915032 A A 2 0 0 0 0 0 2 Positive
rs756345 4 90073214 G C 2 0 0 0 0 0 2 Negative
rs7625163 3 31175501 T C 2 0 0 0 0 0 2 Negative
rs7649494 3 152611465 A A 2 0 0 0 0 0 2 Negative
AutG1007CDH9rs7704909 5 25898921 T C 2 0 0 0 0 0 2 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