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
AutG135ADORA2Ars4822492 2 24843594 C C 0 1 0 0 0 0 1 Positive
AutG85358SHANK3rs4824116 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs4887536 1 27348528 A A 0 1 0 0 0 0 1 Negative
AutG492ATP2B3rs4898359 X 152828161 T C 0 1 0 0 0 0 1 Negative
AutG492ATP2B3rs4898360 X 152842741 G C 0 1 0 0 0 0 1 Negative
AutG492ATP2B3rs4898421 X 152834160 G A 0 1 0 0 0 0 1 Negative
AutG57194ATP10Ars4906629 1 25983435 A A 0 1 0 0 0 0 1 Negative
AutG6638SNRPNrs4906699 1 25321029 C C 0 1 0 0 0 0 1 Positive
AutG57194ATP10Ars4906750 1 25946584 C C 0 1 0 0 0 0 1 Negative
AutG4684NCAM1rs4937786 1 112753107 C A 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs4969245 1 79056453 C C 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs4969349 1 79006033 G A 0 1 0 0 0 0 1 Positive
AutG1584CYP11B1rs5288 8 143958126 A G 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs548897 1 57718030 G A 0 1 0 0 0 0 1 Positive
AutG4489MT1Ars56031221 - - - - 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars56178387 - - - - 0 1 0 0 0 0 1 Negative
AutG135ADORA2Ars5751862 2 24802564 G A 0 1 0 0 0 0 1 Positive
AutG135ADORA2Ars5751876 2 24837301 T C 0 1 0 0 0 0 1 Positive
AutG135ADORA2Ars5760405 2 24813841 C C 0 1 0 0 0 0 1 Positive
AutG4684NCAM1rs584427 1 113103996 T A 0 1 0 0 0 0 1

Page Counts: 102/584  
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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