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
-rs2106442 - - - - 0 1 0 0 0 0 1 Positive
AutG51760SYT17rs2106671 1 19270620 T C 0 1 0 0 0 0 1 Negative
AutG4664NAB1rs2109957 2 191535311 T A 0 1 0 0 0 0 1 Negative
AutG2566GABRG2rs211014 - - - - 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs2111203 - - - - 0 1 0 0 0 0 1 Positive
AutG1610DAOrs2111902 1 109278747 T G 0 1 0 0 0 0 1 Negative
AutG4862NPAS2rs2117714 2 101521777 G C 0 1 0 0 0 0 1 Positive
AutG2555GABRA2rs2119767 4 46391573 T A 0 1 0 0 0 0 1 Positive
AutG5136PDE1Ars2128043 2 183116900 A A 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs2129575 1 72340073 G G 0 1 0 0 0 0 1 Positive
AutG26958COPG2rs2129905 - - - - 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs2139184 3 8795494 C A 0 1 0 0 0 0 1 Positive
AutG56171DNAH7rs2139389 2 196938364 C C 0 1 0 0 0 0 1 Negative
AutG2570GABRR2rs2148174 6 90005925 T C 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs2152836 - - - - 0 1 0 0 0 0 1 Positive
AutG64221ROBO3rs2155417 1 124734286 C C 0 1 0 0 0 0 1 Positive
AutG146183OTOArs215884 1 21724919 T A 0 1 0 0 0 0 1 Negative
-rs215897 1 21678069 C C 0 1 0 0 0 0 1 Negative
AutG146183OTOArs215901 1 21730449 C A 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs2160555 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 31/584  
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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