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
AutG23144ZC3H3 - 8 144550669 G A 0 0 0 0 1 0 1
AutG23144ZC3H3 - 8 144561775 G A 0 0 0 0 1 0 1
AutG79792GSDMD - 8 144642836 C A 0 0 0 0 1 0 1
AutG83481EPPK1 - 8 144941198 T G 0 0 0 0 1 0 1
AutG7564ZNF16 - 8 146157104 C G 0 0 0 0 1 0 1
AutG7991TUSC3 - 8 15669447 G C 0 0 0 0 1 0 1
AutG7991TUSC3 - 8 15669488 T G 0 0 0 0 1 0 1
AutG9228DLGAP2 - 8 1624708 G C 0 0 0 0 1 0 1
AutG57509MTUS1 - 8 17513464 G A 0 0 0 0 1 0 1 Positive
AutG57509MTUS1 - 8 17612686 A C 0 0 0 0 1 0 1
AutG9172MYOM2 - 8 2050520 G A 0 0 0 0 1 0 1
AutGLZTS1-AS1 - 8 20676945 A G 0 0 0 0 1 0 1
AutG23221RHOBTB2 - 8 22862104 G T 0 0 0 0 1 0 1
AutG8794TNFRSF10C - 8 22974278 C T 0 0 0 0 1 0 1
AutG148ADRA1A - 8 26721888 A C 0 0 0 0 1 0 1
AutG148ADRA1A - 8 26722027 A C 0 0 0 0 1 0 1
AutG64478CSMD1 - 8 2800085 C T 0 0 0 0 1 0 1 Positive
AutG64478CSMD1 - 8 2965294 G C 0 0 0 0 1 0 1
AutG64478CSMD1 - 8 3253832 C T 0 0 0 0 1 0 1
AutG3084NRG1 - 8 32617875 C G 0 0 0 0 1 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