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
AutG2131EXT1 - 8 118830706 C T 0 0 0 2 0 0 2 Positive
AutG210ALAD - 9 116151738 C T 0 0 0 2 0 0 2
AutG6792CDKL5 - - - - - 0 0 0 0 2 0 2 Positive
AutG288ANK3 - - - C T 0 0 0 0 2 0 2 Positive
AutG10295BCKDK - - - - - 0 0 0 0 0 2 2 Positive
AutG2557GABRA4rs10021918 4 46943726 C C 0 3 0 0 0 0 3 Positive
AutG5021OXTRrs1042778 3 8794545 G C 0 3 0 0 0 0 3 Negative
AutG2557GABRA4rs10517174 4 46982826 G A 0 3 0 0 0 0 3 Positive
AutG121278TPH2rs10784941 1 72336512 A A 0 3 0 0 0 0 3 Negative
AutG27185DISC1rs1322784 - - - - 0 3 0 0 0 0 3 Positive
AutG5021OXTRrs13316193 3 8802743 T C 0 3 0 0 0 0 3 Positive
AutG2560GABRB1rs1372496 4 47207808 T A 0 3 0 0 0 0 3 Negative
AutG2567GABRG3rs140674 1 27573968 T C 0 3 0 0 0 0 3 Positive
AutG2558GABRA5rs140681 1 27182212 G A 0 3 0 0 0 0 3 Negative
AutG2558GABRA5rs140683 1 27188335 T A 0 3 0 0 0 0 3 Negative
AutG6532SLC6A4rs140701 1 28538532 C A 0 3 0 0 0 0 3 Negative
AutG2557GABRA4rs1512136 4 46932206 T A 0 3 0 0 0 0 3 Positive
AutG3690ITGB3rs15908 1 45368337 A A 0 3 0 0 0 0 3
AutG5579PRKCBrs1873423 1 23970677 T C 0 3 0 0 0 0 3 Positive
AutG2557GABRA4rs1912960 4 46953881 G C 0 3 0 0 0 0 3 Positive

Page Counts: 579/584  
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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