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
AutG11120BTN2A1 - 6 26463682 T C 0 0 1 0 0 0 1 Positive
AutG696BTN1A1 - 6 26508728 G R 0 0 1 0 0 0 1
AutG8970HIST1H2BJ - 6 27100214 C A 0 0 1 0 0 0 1
AutG100131289LOC100131289 - 6 27763659 C G 0 0 1 0 0 0 1
AutG387032ZKSCAN4 - 6 28213477 T C 0 0 1 0 0 0 1
AutGZSCAN26 - 6 28239880 G A 0 0 1 0 0 0 1
AutG80317ZKSCAN3 - 6 28327608 AGGAGCAGATCCTGGAGCTGCTGGTGCT A 0 0 1 0 0 0 1
AutG9753ZSCAN12 - 6 28347331 G A 0 0 1 0 0 0 1
AutGHLA-F-AS1 - 6 29697892 ATGCTCG A 0 0 1 0 0 0 1
AutG3133HLA-E - 6 30457613 A G 0 0 1 0 0 0 1
AutG23ABCF1 - 6 30554028 C T 0 0 1 0 0 0 1
AutG221545C6orf136 - 6 30615559 C G 0 0 1 0 0 0 1
AutG9656MDC1 - 6 30672041 C T 0 0 1 0 0 0 1
AutGBAG6 - 6 31609641 T TG 0 0 1 0 0 0 1
AutG7407VARS - 6 31746848 G A 0 0 1 0 0 0 1
AutG7407VARS - 6 31747474 C A 0 0 1 0 0 0 1
AutG7407VARS - 6 31760609 G A 0 0 1 0 0 0 1
AutG717C2 - 6 31896646 C T 0 0 1 0 0 0 1
AutG1797DOM3Z - 6 31938187 C T 0 0 1 0 0 0 1 Positive
AutG7148TNXB - 6 32020552 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