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
AutG390064OR51I2 - 11 5475505 C T 0 0 0 0 1 0 1
AutG81327OR4A16 - 11 55111500 T C 0 0 0 0 1 0 1
AutG219428OR4C16 - 11 55340387 G A 0 0 0 0 1 0 1
AutG390077OR52N2 - 11 5842283 T A 0 0 0 0 1 0 1
AutG374393FAM111B - 11 58892386 A - 0 0 0 0 1 0 1
AutG341116MS4A10 - 11 60567311 G A 0 0 0 0 1 0 1
AutGMUPCDH - 11 619539 C T 0 0 0 0 1 0 1
AutG117245HRASLS5 - 11 63233635 A C 0 0 0 0 1 0 1
AutG9379NRXN2 - 11 64453180 C T 0 0 0 0 1 0 1
AutG29901SAC3D1 - 11 64811900 C T 0 0 0 0 1 0 1
AutG144132DNHD1 - 11 6578188 C T 0 0 0 0 1 0 1
AutG582BBS1 - 11 66293652 T G 0 0 0 0 1 0 1 Positive
AutG89ACTN3 - 11 66330533 C T 0 0 0 0 1 0 1
AutG8642DCHS1 - 11 6661600 G T 0 0 0 0 1 0 1
AutG8642DCHS1 - 11 6661841 G A 0 0 0 0 1 0 1
AutG29984RHOD - 11 66837996 G A 0 0 0 0 1 0 1
AutG54961SSH3 - 11 67074393 G A 0 0 0 0 1 0 1
AutG390212GPR152 - 11 67219133 G A 0 0 0 0 1 0 1
AutG1374CPT1A - 11 68548130 G A 0 0 0 0 1 0 1 Positive
AutG3508IGHMBP2 - 11 68701932 G A 0 0 0 0 1 0 1

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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