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
AutG51493RTCB - 22 32804767 T A 0 0 0 2 0 0 2
AutG4627MYH9 - 22 36716407 G A 0 0 0 2 0 0 2
AutG152273FGD5 - 3 14960293 C T 0 0 0 2 0 0 2
AutG6336SCN10A - 3 38770255 C T 0 0 0 2 0 0 2
AutG54986ULK4 - 3 41961295 G A 0 0 0 2 0 0 2
AutG131450CD200R1 - 3 112647684 G C 0 0 0 2 0 0 2
AutG604BCL6 - 3 187446290 T G 0 0 0 2 0 0 2
AutG166793ZBTB49 - 4 4303826 A T 0 0 0 2 0 0 2
AutG152518NFXL1 - 4 47900786 C A 0 0 0 2 0 0 2 Positive
AutG84249PSD2 - 5 139219740 C G 0 0 0 2 0 0 2
AutG3720JARID2 - 6 15374368 G A 0 0 0 2 0 0 2
AutG117283IP6K3 - 6 33694623 C T 0 0 0 2 0 0 2
AutG3159HMGA1 - 6 34208681 G A 0 0 0 2 0 0 2
AutG114792KLHL32 - 6 97561801 C T 0 0 0 2 0 0 2
AutG2534FYN - 6 112015899 G A 0 0 0 2 0 0 2
AutG4018LPA - 6 160998168 G A 0 0 0 2 0 0 2 Positive
AutG221981THSD7A - 7 11485770 G A 0 0 0 2 0 0 2
AutG10457GPNMB - 7 23296615 G A 0 0 0 2 0 0 2 Positive
AutG7036TFR2 - 7 100229477 C A 0 0 0 2 0 0 2
AutG8985PLOD3 - 7 100850973 C T 0 0 0 2 0 0 2

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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