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
AutG5966REL - 2 61145360 T G 0 0 0 1 0 0 1
AutG6509SLC1A4 - 2 65245299 G A 0 0 0 1 0 0 1 Positive
AutG83439TCF7L1 - 2 85529727 G T 0 0 0 1 0 0 1 Positive
AutG54884RETSAT - 2 85571833 C T 0 0 0 1 0 0 1
AutG100616399MIR4436A - 2 89160476 C T 0 0 0 1 0 0 1
AutG64969MRPS5 - 2 95774145 C T 0 0 0 1 0 0 1 Positive
AutG400986ANKRD36C - 2 96610876 T C 0 0 0 1 0 0 1
AutG1329COX5B - 2 98263555 G A 0 0 0 1 0 0 1
AutG80705TSGA10 - 2 99681512 G A 0 0 0 1 0 0 1
- 2 109961258 A G 0 0 0 1 0 0 1
AutG339745SPOPL - 2 139316934 G T 0 0 0 1 0 0 1
AutG53353LRP1B - 2 141291600 T C 0 0 0 1 0 0 1
AutG55777MBD5 - 2 149243456 A G 0 0 0 1 0 0 1
AutG4703NEB - 2 152543981 G A 0 0 0 1 0 0 1
AutG29994BAZ2B - 2 160239207 G A 0 0 0 1 0 0 1
AutG64135IFIH1 - 2 163174408 T G 0 0 0 1 0 0 1
AutG90134KCNH7 - 2 163369171 A G 0 0 0 1 0 0 1
AutG6326SCN2A - 2 166211152 A T 0 0 0 1 0 0 1 Positive
- 2 166788316 T A 0 0 0 1 0 0 1
AutG129446XIRP2 - 2 168100145 C T 0 0 0 1 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