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
AutG3728JUP - 17 39919351 G GGCGCAGA 0 0 1 0 0 0 1
AutG47ACLY - 17 40025344 A G 0 0 1 0 0 0 1 Positive
AutG47ACLY - 17 40042385 G R 0 0 1 0 0 0 1
AutG1267CNP - 17 40123912 G A 0 0 1 0 0 0 1
AutG28511NKIRAS2 - 17 40175841 C G 0 0 1 0 0 0 1 Positive
AutG2648KAT2A - 17 40269445 C T 0 0 1 0 0 0 1 Positive
AutG94086HSPB9 - 17 40275291 A G 0 0 1 0 0 0 1
AutG6776STAT5A - 17 40441466 G T 0 0 1 0 0 0 1 Positive
AutG535ATP6V0A1 - 17 40666450 G A 0 0 1 0 0 0 1 Positive
AutG7283TUBG1 - 17 40765890 C G 0 0 1 0 0 0 1 Positive
AutG7283TUBG1 - 17 40765950 G A 0 0 1 0 0 0 1
AutG84313VPS25 - 17 40925870 C A 0 0 1 0 0 0 1 Positive
AutG8639AOC3 - 17 41004302 A G 0 0 1 0 0 0 1
AutG146923RUNDC1 - 17 41141433 C T 0 0 1 0 0 0 1 Positive
AutG672BRCA1 - 17 41244230 A T 0 0 1 0 0 0 1
AutG2118ETV4 - 17 41610239 A G 0 0 1 0 0 0 1
AutG78995C17orf53 - 17 42225873 C T 0 0 1 0 0 0 1
AutG92591ASB16 - 17 42255667 G A 0 0 1 0 0 0 1
AutG7343UBTF - 17 42284918 ATCCTCG A 0 0 1 0 0 0 1
AutG6521SLC4A1 - 17 42335477 G A 0 0 1 0 0 0 1 Positive

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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