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
AutG860RUNX2 - 6 45390457 G A 0 0 1 0 0 0 1
AutG860RUNX2 - 6 45459840 G A 0 0 1 0 0 0 1 Positive
AutG860RUNX2 - 6 45745675 C T 0 0 1 0 0 0 1
AutG221400TDRD6 - 6 46661295 A G 0 0 1 0 0 0 1
AutG7941PLA2G7 - 6 46684253 G A 0 0 1 0 0 0 1 Positive
AutG266977GPR110 - 6 46976699 A C 0 0 1 0 0 0 1
AutGPTCHD4 - 6 48637061 C G 0 0 1 0 0 0 1
AutG5314PKHD1 - 6 51618094 A G 0 0 1 0 0 0 1 Positive
AutG401265KLHL31 - 6 53519591 A G 0 0 1 0 0 0 1
AutGMLIP - 6 53986370 A C 0 0 1 0 0 0 1
AutGMLIP - 6 54126419 T C 0 0 1 0 0 0 1
AutG389400GFRAL - 6 55298168 G C 0 0 1 0 0 0 1
AutG667DST - 6 56566767 AG A 0 0 1 0 0 0 1
AutG202559KHDRBS2 - 6 63210000 A G 0 0 1 0 0 0 1
AutG23469PHF3 - 6 64413433 CCG C 0 0 1 0 0 0 1
AutG23469PHF3 - 6 64413518 CACAG C 0 0 1 0 0 0 1
AutG23469PHF3 - 6 64413518 CACAGACAG CACAG 0 0 1 0 0 0 1
AutG23469PHF3 - 6 64423108 C T 0 0 1 0 0 0 1
AutG23469PHF3 - 6 64423242 C T 0 0 1 0 0 0 1 Positive
AutG1310COL19A1 - 6 70637786 G T 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