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
AutG1857DVL3rs2175525 3 183886945 A G 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs2188355 1 23867776 T C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs2188356 1 23931713 C A 0 1 0 0 0 0 1 Positive
-rs2188443 - - - - 0 1 0 0 0 0 1 Positive
AutG7166TPH1rs2189593 1 17832433 C C 0 1 0 0 0 0 1 Positive
AutG54715A2BP1rs2191133 1 7744600 A C 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs2194958 1 26907409 C C 0 1 0 0 0 0 1 Positive
AutG6638SNRPNrs220029 1 25200303 G C 0 1 0 0 0 0 1 Negative
AutG6638SNRPNrs220030 1 25199768 T A 0 1 0 0 0 0 1 Negative
AutG627BDNFrs2203877 1 27670910 T C 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs2216259 - - - - 0 1 0 0 0 0 1 Positive
AutG9732DOCK4rs2217262 - - - - 0 1 0 0 0 0 1 Positive
AutG5054SERPINE1rs2227631 - - - - 0 1 0 0 0 0 1 Positive
AutG1746DLX2rs2228184 2 172966250 T A 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2229860 - - - - 0 1 0 0 0 0 1 Positive
AutG1950EGFrs2237051 4 110901198 G A 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2237632 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs2237635 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs2237712 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs2237717 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 32/584  
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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