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
AutG171389NLRP6 - 11 284614 C A 0 0 2 0 0 0 2
AutG118611C10orf90 - 10 128118361 A G 0 0 2 0 0 0 2
AutG6934TCF7L2 - 10 114901076 G A 0 0 2 0 0 0 2
AutG9748SLK - 10 105768025 C T 0 0 2 0 0 0 2 Positive
AutG1586CYP17A1 - 10 104595121 C T 0 0 2 0 0 0 2
AutG23223RRP12 - 10 99160118 C T 0 0 2 0 0 0 2
AutG54619CCNJ - 10 97816903 G A 0 0 2 0 0 0 2
AutG5728PTEN - 10 89711882 C M 0 0 2 0 0 0 2
AutG79812MMRN2 - 10 88703271 C T 0 0 2 0 0 0 2
AutG6441SFTPD - 10 81702258 G A 0 0 2 0 0 0 2 Positive
AutG3778KCNMA1 - 10 78943225 C T 0 0 2 0 0 0 2
AutG3778KCNMA1 - 10 78869948 A C 0 0 2 0 0 0 2 Positive
AutG64072CDH23 - 10 73491982 C T 0 0 2 0 0 0 2
AutG221037JMJD1C - 10 64967942 T C 0 0 2 0 0 0 2
AutG6840SVIL - 10 29769625 C A 0 0 2 0 0 0 2
AutG56243KIAA1217 - 10 24802273 T C 0 0 2 0 0 0 2 Positive
AutG4139MARK1 - 1 220835211 G A 0 0 2 0 0 0 2
AutG7399USH2A - 1 216363573 A G 0 0 2 0 0 0 2
AutG23114NFASC - 1 204978698 C T 0 0 2 0 0 0 2
AutG89796NAV1 - 1 201687561 C A 0 0 2 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