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
AutG27094KCNMB3rs1468924 3 178982969 G G 0 1 0 0 0 0 1 Negative
AutG10152ABI2rs1470789 2 204277608 G C 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs1472647 3 173385272 G A 0 1 0 0 0 0 1 Positive
AutG79838TMC5rs1475964 1 19505406 T A 0 1 0 0 0 0 1 Negative
-rs1480101 - - - - 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs1488467 3 8813231 G C 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs1488545 3 173483434 C G 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs1488547 3 173525768 A C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs1490754 1 24015066 C C 0 1 0 0 0 0 1 Positive
AutG627BDNFrs1491850 1 27749725 T C 0 1 0 0 0 0 1 Negative
AutG627BDNFrs1491851 1 27752763 T C 0 1 0 0 0 0 1 Negative
AutG84152PPP1R1Brs1495099 1 37784464 C C 0 1 0 0 0 0 1 Positive
AutG2565GABRG1rs1497571 4 46059250 C A 0 1 0 0 0 0 1 Negative
-rs1499289 - - - - 0 1 0 0 0 0 1 Negative
AutG146183OTOArs150583 1 21712743 G C 0 1 0 0 0 0 1 Negative
-rs1506074 - - - - 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs1507008 1 7648602 G A 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs1507030 1 7611156 C C 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs1507031 1 7611378 A A 0 1 0 0 0 0 1 Negative
AutG57194ATP10Crs1511488 1 26111921 C C 0 1 0 0 0 0 1 Positive

Page Counts: 19/584  
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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