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
AutG22871NLGN1 - 3 173240607 G A 0 0 1 0 0 0 1
AutG22871NLGN1 - 3 173587491 G A 0 0 1 0 0 0 1
AutG22871NLGN1 - 3 173687596 C T 0 0 1 0 0 0 1
AutG22871NLGN1 - 3 173999004 C Y 0 0 1 0 0 0 1
AutG254827NAALADL2 - 3 174935512 G A 0 0 1 0 0 0 1
AutG254827NAALADL2 - 3 174955785 A G 0 0 1 0 0 0 1
AutG79718TBL1XR1 - 3 175269353 - - 0 0 1 0 0 0 1
AutG79718TBL1XR1 - 3 175282413 A - 0 0 1 0 0 0 1
AutG79718TBL1XR1 - 3 176750796 - T 0 0 1 0 0 0 1
AutG79718TBL1XR1 - 3 176752047 * -A/* 0 0 1 0 0 0 1
AutG79718TBL1XR1 - 3 176767858 A T 0 0 1 0 0 0 1 Positive
AutG79718TBL1XR1 - 3 177273106 C T 0 0 1 0 0 0 1
AutG5290PIK3CA - 3 178916936 G A 0 0 1 0 0 0 1 Positive
AutG5290PIK3CA - 3 178947865 G A 0 0 1 0 0 0 1 Positive
AutG5290PIK3CA - 3 178952088 A G 0 0 1 0 0 0 1 Positive
AutG59345GNB4 - 3 179123022 T C 0 0 1 0 0 0 1 Positive
AutG151613TTC14 - 3 180320187 G T 0 0 1 0 0 0 1
AutG151613TTC14 - 3 180328097 C T 0 0 1 0 0 0 1
AutG27074LAMP3 - 3 182871681 T G 0 0 1 0 0 0 1
AutG23101MCF2L2 - 3 182923938 C T 0 0 1 0 0 0 1

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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