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
AutG3720JARID2rs13208655 6 15257739 T C 2 0 0 0 0 0 2 Positive
rs13215654 6 113156392 A A 2 0 0 0 0 0 2 Negative
rs13218679 6 113463252 C C 2 0 0 0 0 0 2 Negative
rs1366315 5 67256569 T A 2 0 0 0 0 0 2 Negative
rs1374520 8 105307981 C A 2 0 0 0 0 0 2 Negative
rs1378441 5 97744026 C A 2 0 0 0 0 0 2 Negative
AutG11281POU6F2rs1404999 - - - - 2 0 0 0 0 0 2 Negative
rs1411355 9 110472296 C A 2 0 0 0 0 0 2 Negative
rs1425761 8 75487288 C A 2 0 0 0 0 0 2 Positive
rs1427395 2 153733922 T A 2 0 0 0 0 0 2 Positive
AutG54778RNF111rs1446240 1 59296491 G A 2 0 0 0 0 0 2 Negative
AutG50863NTMrs1448363 1 131320190 T C 2 0 0 0 0 0 2 Negative
rs1455420 5 97756382 T A 2 0 0 0 0 0 2 Negative
rs1479278 4 12099503 A G 2 0 0 0 0 0 2 Negative
AutG50863NTMrs1550976 1 131320070 T C 2 0 0 0 0 0 2 Negative
rs1563317 5 97768486 A C 2 0 0 0 0 0 2 Positive
AutG2066ERBB4rs16848148 2 213143616 A A 2 0 0 0 0 0 2 Positive
rs16879418 5 7914632 C C 2 0 0 0 0 0 2 Negative
AutG2620GAS2rs16910190 1 22828606 T G 2 0 0 0 0 0 2 Negative
AutG2620GAS2rs16910194 1 22828912 G A 2 0 0 0 0 0 2 Negative

Page Counts: 554/584  
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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