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
AutGAGMO - 7 15392073 T - 0 0 0 0 1 0 1
AutGPAXIP1-AS1 - 7 154810179 G A 0 0 0 0 1 0 1
AutG9690UBE3C - 7 157286838 * +A/* 0 0 0 0 1 0 1 Positive
AutG55112WDR60 - 7 158663939 A G 0 0 0 0 1 0 1
AutG202915TMEM184A - 7 1587440 G A 0 0 0 0 1 0 1
AutG25928SOSTDC1 - 7 16502441 A G 0 0 0 0 1 0 1
AutG9734HDAC9 - 7 18624949 C T 0 0 0 0 1 0 1 Positive
AutG346389MACC1 - 7 20180729 G A 0 0 0 0 1 0 1
AutG26031OSBPL3 - 7 24905795 C T 0 0 0 0 1 0 1 Positive
AutG8935SKAP2 - 7 26764653 G T 0 0 0 0 1 0 1
AutG2692GHRHR - 7 31018852 T C 0 0 0 0 1 0 1
AutG27241BBS9 - 7 33384197 C T 0 0 0 0 1 0 1
AutG11281POU6F2 - 7 39073089 C G 0 0 0 0 1 0 1
AutG27434POLM - 7 44118394 C G 0 0 0 0 1 0 1
AutG29881NPC1L1 - 7 44561344 G A 0 0 0 0 1 0 1
AutG83637ZMIZ2 - 7 44802861 G A 0 0 0 0 1 0 1
AutG64005MYO1G - 7 45005293 C T 0 0 0 0 1 0 1
AutG64005MYO1G - 7 45009432 G A 0 0 0 0 1 0 1
AutG107ADCY1 - 7 45747949 G A 0 0 0 0 1 0 1
AutG136288C7orf57 - 7 48086151 G A 0 0 0 0 1 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