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
AutG5649RELNrs3735630 - - - - 0 1 0 0 0 0 1 Positive
AutG2020EN2rs3735652 - - - - 0 1 0 0 0 0 1 Positive
AutG5618PRLRrs37370 5 35039486 C A 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs3737048 9 129458092 G A 0 1 0 0 0 0 1 Positive
AutG149111CNIH3rs3738362 - - - - 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs3738556 1 57535198 C G 0 1 0 0 0 0 1 Positive
AutG23671TMEFF2rs3738882 2 193048895 C C 0 1 0 0 0 0 1 Negative
AutG23671TMEFF2rs3738883 2 192922256 T A 0 1 0 0 0 0 1 Negative
AutG4842NOS1rs3741475 1 117669914 G A 0 1 0 0 0 0 1 Negative
AutG4842NOS1rs3741476 1 117672135 T C 0 1 0 0 0 0 1 Negative
AutG4842NOS1rs3741480 1 117705774 C C 0 1 0 0 0 0 1 Negative
AutG6667SP1rs3741651 1 53777171 A A 0 1 0 0 0 0 1 Negative
AutG552AVPR1Ars3741865 1 63544858 G A 0 1 0 0 0 0 1 Positive
AutG1407CRY1rs3741890 1 107387025 A A 0 1 0 0 0 0 1 Negative
AutG161582DYX1C1rs3743204 1 55790310 G G 0 1 0 0 0 0 1 Negative
AutG1628DBPrs3745734 1 49134388 G C 0 1 0 0 0 0 1 Negative
AutG57502NLGN4Xrs3747333 X 5811532 G C 0 1 0 0 0 0 1 Negative
AutG57502NLGN4Xrs3747334 X 5811530 G A 0 1 0 0 0 0 1 Negative
AutG4520MTF1rs3748682 1 38279987 T C 0 1 0 0 0 0 1 Positive
AutG129401NUP35rs3748883 2 184024143 T C 0 1 0 0 0 0 1 Negative

Page Counts: 47/584  
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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