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
AutG7173TPOrs1514687 - - - - 0 1 0 0 0 0 1 Positive
AutG151242PPP1R1Crs1515894 2 182981264 A C 0 1 0 0 0 0 1 Negative
AutG27347STK39rs1517319 2 169094975 G C 0 1 0 0 0 0 1 Positive
AutG27347STK39rs1517342 2 169015673 T C 0 1 0 0 0 0 1 Positive
AutG627BDNFrs1519479 1 27667531 C C 0 1 0 0 0 0 1 Negative
AutG627BDNFrs1519480 1 27675712 C C 0 1 0 0 0 0 1 Negative
AutG9262STK17Brs1519602 2 197027792 T G 0 1 0 0 0 0 1 Negative
AutG56171DNAH7rs1519611 2 196944333 G A 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs1524707 1 58102540 G A 0 1 0 0 0 0 1 Positive
AutG6338SCNN1Brs152740 1 23369090 A A 0 1 0 0 0 0 1 Negative
AutG83943IMMP2Lrs1528039 - - - - 0 1 0 0 0 0 1 Negative
AutG1119CKIrs1534891 2 38695099 T C 0 1 0 0 0 0 1 Negative
-rs1537851 - - - - 0 1 0 0 0 0 1 Negative
-rs1541338 - - - - 0 1 0 0 0 0 1 Negative
AutG151254ALS2CR11rs1541571 2 202413324 C A 0 1 0 0 0 0 1 Negative
AutG5334PLCL1rs1541953 2 198898344 A A 0 1 0 0 0 0 1 Negative
AutG11221DUSP10rs1547736 - - - - 0 1 0 0 0 0 1 Negative
AutG3676ITGA4rs155100 2 182350087 T A 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs1551031 2 182381549 C A 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs155107 2 182351780 A C 0 1 0 0 0 0 1 Positive

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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