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
AutGPPP1R26 - 9 138378306 G A 0 0 1 0 0 0 1
AutG51116MRPS2 - 9 138392846 G T 0 0 1 0 0 0 1
AutG5047PAEP - 9 138454266 G K 0 0 1 0 0 0 1
AutG157922CAMSAP1 - 9 138713880 G GATGCCAGGAGGCTGGCGGGATCC 0 0 1 0 0 0 1
AutG157922CAMSAP1 - 9 138758402 C T 0 0 1 0 0 0 1
AutG10422UBAC1 - 9 138831489 C CA 0 0 1 0 0 0 1
AutG169714QSOX2 - 9 139108459 T C 0 0 1 0 0 0 1 Positive
AutG26086GPSM1 - 9 139231956 G A 0 0 1 0 0 0 1 Positive
AutG23203PMPCA - 9 139313507 G C 0 0 1 0 0 0 1 Positive
AutG9919SEC16A - 9 139371548 G A 0 0 1 0 0 0 1
AutG4851NOTCH1 - 9 139402449 G A 0 0 1 0 0 0 1
AutG414332LCN10 - 9 139636334 G A 0 0 1 0 0 0 1
AutG54461FBXW5 - 9 139836000 G T 0 0 1 0 0 0 1
AutG54461FBXW5 - 9 139836869 TG T 0 0 1 0 0 0 1
AutG20ABCA2 - 9 139906388 C Y 0 0 1 0 0 0 1
AutG91373UAP1L1 - 9 139973032 C T 0 0 1 0 0 0 1
AutG286262TPRN - 9 140087111 C T 0 0 1 0 0 0 1
AutG142680SLC34A3 - 9 140127091 C Y 0 0 1 0 0 0 1
AutG54863C9orf167 - 9 140173375 C T 0 0 1 0 0 0 1
AutG375775PNPLA7 - 9 140357232 T K 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