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
AutG65217PCDH15 - 10 55996624 G A 0 0 0 0 0 1 1 Positive
AutG65217PCDH15 - 10 56077066 T C 0 0 0 0 0 1 1 Positive
AutG65217PCDH15 - 10 56089405 C T 0 0 0 0 0 1 1 Positive
AutG65217PCDH15 - 10 56138652 C T 0 0 0 0 0 1 1 Positive
AutG65217PCDH15 - 10 56138680 C T 0 0 0 0 0 1 1 Positive
AutG288ANK3 - 10 61846456 G A 0 0 0 0 0 1 1 Positive
AutG221037JMJD1C - 10 64943294 - - 0 0 0 0 0 1 1 Positive
AutG6229RPS24 - 10 79814469 C T 0 0 0 0 0 1 1 Positive
AutG5962RDX - 11 - C A 0 0 0 0 0 1 1 Positive
AutG5962RDX - 11 - C T 0 0 0 0 0 1 1 Positive
AutG5962RDX - 11 - G C 0 0 0 0 0 1 1 Positive
AutG27255CNTN6 - 11 - T A 0 0 0 0 0 1 1
AutG7225TRPC6 - 11 101340218 C A 0 0 0 0 0 1 1 Positive
AutG10522DEAF1 - 11 680959 - - 0 0 0 0 0 1 1 Positive
AutG23389MED13L - 12 116434859 - A 0 0 0 0 0 1 1
AutG7471WNT1 - 12 49375103 A C 0 0 0 0 0 1 1 Positive
AutG23077MYCBP2 - 13 77672744 - - 0 0 0 0 0 1 1 Positive
AutG23077MYCBP2 - 13 77672767 - - 0 0 0 0 0 1 1 Positive
AutG23077MYCBP2 - 13 77700625 - - 0 0 0 0 0 1 1 Positive
AutG23077MYCBP2 - 13 77714277 - - 0 0 0 0 0 1 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