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
AutG7025NR2F1 - 5 92920811 C T 0 0 1 0 0 0 1
AutG7025NR2F1 - 5 92921034 C T 0 0 1 0 0 0 1 Positive
AutG7025NR2F1 - 5 92929487 G A 0 0 1 0 0 0 1 Positive
AutGKIAA0825 - 5 93542940 T G 0 0 1 0 0 0 1
AutG79772MCTP1 - 5 94296553 G A 0 0 1 0 0 0 1
AutG79772MCTP1 - 5 94620051 T G 0 0 1 0 0 0 1
AutG153643FAM81B - 5 94756094 G A 0 0 1 0 0 0 1 Positive
AutG9652TTC37 - 5 94830465 A T 0 0 1 0 0 0 1
AutG1105CHD1 - 5 98194693 C CA 0 0 1 0 0 0 1
AutG1105CHD1 - 5 98208223 C T 0 0 1 0 0 0 1 Positive
AutG1105CHD1 - 5 98235279 G A 0 0 1 0 0 0 1
AutG2241FER - 5 108251978 T C 0 0 1 0 0 0 1
AutGNREP - 5 111385829 C T 0 0 1 0 0 0 1
AutG324APC - 5 112120370 G A 0 0 1 0 0 0 1
AutG4163MCC - 5 112605198 T G 0 0 1 0 0 0 1
AutG64848YTHDC2 - 5 112860714 A G 0 0 1 0 0 0 1
AutG64848YTHDC2 - 5 112868624 C Y 0 0 1 0 0 0 1
AutG64848YTHDC2 - 5 112878139 A G 0 0 1 0 0 0 1
AutG64848YTHDC2 - 5 112899557 C T 0 0 1 0 0 0 1 Positive
AutG3781KCNN2 - 5 114271680 C A 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