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
AutG10242KCNMB2rs7623291 3 178356237 C C 0 1 0 0 0 0 1 Positive
AutG285242HTR3Ers7627615 3 183818416 G A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs7629468 3 178408570 G C 0 1 0 0 0 0 1 Positive
AutG8087FXR1rs7630922 3 180592360 G C 0 1 0 0 0 0 1 Positive
AutG54715A2BP1rs763649 1 7729145 A A 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs7637320 3 178483561 A A 0 1 0 0 0 0 1 Positive
AutG5290PIK3CArs7640662 3 178902001 C C 0 1 0 0 0 0 1 Negative
-rs764113 - - - - 0 1 0 0 0 0 1 Negative
AutG5290PIK3CArs7641889 3 178886609 C C 0 1 0 0 0 0 1 Negative
AutG6092ROBO2rs7642482 3 77717756 A A 0 1 0 0 0 0 1 Positive
AutG27094KCNMB3rs7645550 3 178968634 C C 0 1 0 0 0 0 1 Negative
AutG27094KCNMB3rs7645810 3 178976207 A A 0 1 0 0 0 0 1 Negative
-rs764685 2 202888671 A A 0 1 0 0 0 0 1 Negative
AutG22871NLGN1rs7646919 3 173997153 G A 0 1 0 0 0 0 1 Positive
AutG8646CHRDrs7648852 3 184118600 A A 0 1 0 0 0 0 1 Negative
AutG5290PIK3CArs7651265 3 178893029 A A 0 1 0 0 0 0 1 Negative
AutG2049EPHB3rs7652280 3 184302634 C C 0 1 0 0 0 0 1 Negative
AutG2566GABRG2rs766349 - - - - 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs768899 1 26877824 G C 0 1 0 0 0 0 1 Positive
AutG5307PITX1rs7700313 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 72/584  
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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