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
AutG2020EN2rs808329 1 116503091 T A 0 1 0 0 0 0 1 Positive
AutG15AANATrs8150 1 74467017 G C 0 1 0 0 0 0 1 Positive
AutG7040TGFB1rs8179181 1 41838206 G A 0 1 0 0 0 0 1 Negative
AutG5136PDE1Ars833149 2 183223013 T A 0 1 0 0 0 0 1 Negative
AutG5136PDE1Ars833152 2 183219101 C C 0 1 0 0 0 0 1 Negative
AutG5136PDE1Ars833154 2 183217789 G C 0 1 0 0 0 0 1 Negative
AutG2903GRIN2Ars837694 1 10110040 A A 0 1 0 0 0 0 1 Negative
AutG1857DVL3rs843346 3 183893519 C A 0 1 0 0 0 0 1 Negative
AutG8828NRP2rs849523 2 206595936 G C 0 1 0 0 0 0 1 Positive
AutG8828NRP2rs849526 2 206592695 T A 0 1 0 0 0 0 1 Positive
AutG8828NRP2rs849563 2 206610502 T A 0 1 0 0 0 0 1 Positive
AutG8828NRP2rs849578 2 206603522 G A 0 1 0 0 0 0 1 Positive
AutG5444PON1rs854560 - - - - 0 1 0 0 0 0 1 Negative
AutG55567DNAH3rs861424 1 21078693 T A 0 1 0 0 0 0 1 Negative
AutG2903GRIN2Ars865678 1 10106274 A A 0 1 0 0 0 0 1 Negative
-rs867027 - - - - 0 1 0 0 0 0 1 Negative
AutG9732KIAA0716rs867915 - - - - 0 1 0 0 0 0 1 Negative
AutG57194ATP10Crs872537 1 26048205 A A 0 1 0 0 0 0 1 Negative
AutG27185DISC1rs872624 - - - - 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs872733 3 178241487 C A 0 1 0 0 0 0 1 Positive

Page Counts: 75/584  
75 First  Previous  74  75  76  Next  Last

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