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
AutG4916NTRK3rs3784406 1 88685330 C A 0 1 0 0 0 0 1 Positive
AutG139411PTCHD1rs3810720 X 23415796 A G 0 1 0 0 0 0 1 Negative
AutG1644DDCrs3823674 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs383341 - - - - 0 1 0 0 0 0 1 Positive
AutG4855NOTCH4rs387081 - - - - 0 1 0 0 0 0 1 Negative
AutG4233METrs38845 - - - - 0 1 0 0 0 0 1 Positive
AutG9915ARNT2rs3901896 1 80734097 C C 0 1 0 0 0 0 1 Positive
AutG4520MTF1rs3912368 - - - - 0 1 0 0 0 0 1 Positive
AutG7472WNT2rs39315 - - - - 0 1 0 0 0 0 1 Positive
AutG139411PTCHD1rs3952257 X 23389770 T A 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs402029 - - - - 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs4075482 1 79074548 C A 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs4076037 1 79044284 A C 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs409969 - - - - 0 1 0 0 0 0 1 Positive
AutG324APCrs42427 5 112176325 G A 0 1 0 0 0 0 1 Negative
AutG1813DRD2rs4245146 1 113317973 T C 0 1 0 0 0 0 1 Positive
AutGDMT1rs427020 - - - - 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs4290270 1 72416235 A A 0 1 0 0 0 0 1 Positive
AutG683BST1rs4301112 4 15717226 T C 0 1 0 0 0 0 1 Positive
AutGLAT1rs4356486 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 100/584  
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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