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
AutG7035TFPIrs3755248 2 188370232 T A 1 0 0 0 0 0 1 Negative
AutG55079FEZF2rs3755827 3 62360371 T C 1 0 0 0 0 0 1 Positive
AutG7704ZBTB16rs3782000 1 114072875 C A 1 0 0 0 0 0 1 Positive
AutG3937LCP2rs3804254 - - - - 1 0 0 0 0 0 1 Positive
AutGFLJ20160rs3811608 2 191335057 T C 1 0 0 0 0 0 1 Negative
AutG5649RELNrs3819479 - - - - 1 0 0 0 0 0 1 Negative
rs409649 5 25841163 A C 1 0 0 0 0 0 1 Positive
AutG54842MFSD6rs4129081 2 191307408 G A 1 0 0 0 0 0 1 Positive
AutG4363ABCC1rs4148358 1 16187175 C C 1 0 0 0 0 0 1 Positive
AutG23554TSPAN12rs41620 - - - - 1 0 0 0 0 0 1 Negative
rs423116 5 25801289 G C 1 0 0 0 0 0 1 Positive
AutG9249DHRS3rs4394668 1 12671229 T C 1 0 0 0 0 0 1 Positive
rs4456502 1 10350137 A A 1 0 0 0 0 0 1 Positive
rs4475231 5 25955317 C C 1 0 0 0 0 0 1 Positive
AutG9249DHRS3rs4618985 1 12671324 A A 1 0 0 0 0 0 1 Positive
rs4701259 5 25901098 A A 1 0 0 0 0 0 1 Positive
rs4701260 5 25958905 G A 1 0 0 0 0 0 1 Positive
rs4701511 5 25896004 C A 1 0 0 0 0 0 1 Positive
AutG64409WBSCR17rs4719103 - - - - 1 0 0 0 0 0 1 Positive
AutG375612LHFPL3rs4730037 - - - - 1 0 0 0 0 0 1 Negative

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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