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
AutG646324LOC646324 - 2 216555189 T C 0 0 1 0 0 0 1
AutG50485SMARCAL1 - 2 217300128 G A 0 0 1 0 0 0 1
AutG6168RPL37A - 2 217363534 G T 0 0 1 0 0 0 1
AutG7145TNS1 - 2 218683269 C T 0 0 1 0 0 0 1
AutG7145TNS1 - 2 218713428 G A 0 0 1 0 0 0 1
AutG7429VIL1 - 2 219294054 G A 0 0 1 0 0 0 1 Positive
AutG7429VIL1 - 2 219297564 G A 0 0 1 0 0 0 1 Positive
AutG64320RNF25 - 2 219529550 C T 0 0 1 0 0 0 1
AutG27148STK36 - 2 219537583 G R 0 0 1 0 0 0 1
AutG1412CRYBA2 - 2 219855593 G A 0 0 1 0 0 0 1
AutG79137FAM134A - 2 220045455 A T 0 0 1 0 0 0 1 Positive
AutG10058ABCB6 - 2 220075779 AGTGT AGT 0 0 1 0 0 0 1
AutG10058ABCB6 - 2 220080755 G A 0 0 1 0 0 0 1
AutG55139ANKZF1 - 2 220100806 C T 0 0 1 0 0 0 1
AutG389075RESP18 - 2 220193654 TATAG T 0 0 1 0 0 0 1
AutG10290SPEG - 2 220341659 G T 0 0 1 0 0 0 1
AutG10290SPEG - 2 220353298 G T 0 0 1 0 0 0 1 Positive
AutG29926GMPPA - 2 220370245 C G 0 0 1 0 0 0 1 Positive
AutG130612TMEM198 - 2 220414519 T C 0 0 1 0 0 0 1
AutG7857SCG2 - 2 224463202 C 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