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
AutG27185DISC1rs4366301 - - - - 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs4370006 3 178522077 C C 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs439587 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs4410042 1 27359563 A A 0 1 0 0 0 0 1 Negative
AutG1950EGFrs4444903 4 110834110 A A 0 1 0 0 0 0 1 Negative
AutG438ASMTrs4446909 Y 1683783 G A 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs4453447 1 27003472 G C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs4481139 3 178529856 C A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs449072 1 24162204 C C 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs449514 - - - - 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs4506860 1 87222330 T G 0 1 0 0 0 0 1 Positive
AutG3690ITGB3rs4525555 1 45337949 C C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs452731 1 24151525 G A 0 1 0 0 0 0 1 Positive
AutG1812DRD1rs4532 - - - - 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs4533233 1 27731784 C C 0 1 0 0 0 0 1 Negative
AutG7166TPH1rs4537731 1 18068882 T C 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs4542636 1 26867931 C C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs4542999 3 178562953 C A 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs4550406 1 27709932 C C 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs4555125 1 27339712 G A 0 1 0 0 0 0 1 Negative

Page Counts: 55/584  
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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