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
AutGC19orf15 - 19 38855701 G A 0 0 1 0 0 0 1
AutG199720GGN - 19 38876253 T G 0 0 1 0 0 0 1
AutG115727RASGRP4 - 19 38901907 C G 0 0 1 0 0 0 1
AutG6261RYR1 - 19 38956904 G A 0 0 1 0 0 0 1 Positive
AutG6261RYR1 - 19 39025386 C T 0 0 1 0 0 0 1
AutG6261RYR1 - 19 39038884 A R 0 0 1 0 0 0 1
AutG11184MAP4K1 - 19 39086584 A G 0 0 1 0 0 0 1 Positive
AutG147968CAPN12 - 19 39229252 C T 0 0 1 0 0 0 1
AutG54938SARS2 - 19 39406847 G A 0 0 1 0 0 0 1
AutG57622LRFN1 - 19 39805110 G A 0 0 1 0 0 0 1
AutG57622LRFN1 - 19 39805743 G A 0 0 1 0 0 0 1
AutG9535GMFG - 19 39819156 A R 0 0 1 0 0 0 1
AutG64857PLEKHG2 - 19 39912757 C T 0 0 1 0 0 0 1
AutG6217RPS16 - 19 39926368 CAG C 0 0 1 0 0 0 1
AutG8857FCGBP - 19 40363870 C T 0 0 1 0 0 0 1
AutG339327ZNF546 - 19 40520471 C T 0 0 1 0 0 0 1
AutG92799SHKBP1 - 19 41083341 C T 0 0 1 0 0 0 1
AutG112398EGLN2 - 19 41306763 G A 0 0 1 0 0 0 1
AutG112398EGLN2 - 19 41306892 C A 0 0 1 0 0 0 1
AutG1553CYP2A13 - 19 41594888 G A 0 0 1 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