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
AutG80198MUS81 - 11 65633438 G A 0 0 1 0 0 0 1
AutG5017OVOL1 - 11 65562633 C CG 0 0 1 0 0 0 1
AutG6494SIPA1 - 11 65418056 C A 0 0 1 0 0 0 1
AutG399909PCNXL3 - 11 65403905 G A 0 0 1 0 0 0 1
AutG399909PCNXL3 - 11 65396096 G T 0 0 1 0 0 0 1 Positive
AutG4054LTBP3 - 11 65308738 CCTT C 0 0 1 0 0 0 1
AutG4054LTBP3 - 11 65308636 C T 0 0 1 0 0 0 1 Positive
AutG57410SCYL1 - 11 65306023 C T 0 0 1 0 0 0 1 Positive
AutG57410SCYL1 - 11 65304530 G R 0 0 1 0 0 0 1
AutG5977DPF2 - 11 65111483 C T 0 0 1 0 0 0 1 Positive
AutG387778SPDYC - 11 64939990 C T 0 0 1 0 0 0 1
AutG7542ZFPL1 - 11 64852255 - - 0 0 1 0 0 0 1
AutG23130ATG2A - 11 64667998 G A 0 0 1 0 0 0 1
AutG10938EHD1 - 11 64622239 C T 0 0 1 0 0 0 1 Positive
AutG9379NRXN2 - 11 64457918 C G 0 0 1 0 0 0 1
AutG9379NRXN2 - 11 64444540 A AG 0 0 1 0 0 0 1
AutG55867SLC22A11 - 11 64331869 G T 0 0 1 0 0 0 1 Positive
AutG79829NAA40 - 11 63713339 A M 0 0 1 0 0 0 1
AutG2011MARK2 - 11 63666549 A C 0 0 1 0 0 0 1 Positive
AutG2011MARK2 - 11 63665704 C T 0 0 1 0 0 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