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
AutG7536SF1 - 11 64536710 C T 0 0 0 1 0 0 1 Positive
AutG55561CDC42BPG - 11 64601101 T G 0 0 0 1 0 0 1
AutG23649POLA2 - 11 65048595 G A 0 0 0 1 0 0 1
AutG5091PC - 11 66617104 G C 0 0 0 1 0 0 1 Positive
AutG9873FCHSD2 - 11 72598608 A C 0 0 0 1 0 0 1
AutG7352UCP3 - 11 73717289 G A 0 0 0 1 0 0 1
AutG9789SPCS2 - 11 74660408 C A 0 0 0 1 0 0 1
AutG28971AAMDC - 11 77580840 C T 0 0 0 1 0 0 1
AutG154810AMOTL1 - 11 94603879 G A 0 0 0 1 0 0 1
AutG84441MAML2 - 11 95825242 C T 0 0 0 1 0 0 1
AutG329BIRC2 - 11 102234425 A T 0 0 0 1 0 0 1
AutG2977GUCY1A2 - 11 106681067 G A 0 0 0 1 0 0 1
AutG143884CWF19L2 - 11 107300102 G T 0 0 0 1 0 0 1
AutG23705CADM1 - 11 115102167 C T 0 0 0 1 0 0 1
AutG83552MFRP - 11 119216209 C T 0 0 0 1 0 0 1
AutG7007TECTA - 11 121039453 G A 0 0 0 1 0 0 1
AutG26494OR8G1 - 11 124120446 A C 0 0 0 1 0 0 1
AutG79684MSANTD2 - 11 124637785 G A 0 0 0 1 0 0 1 Positive
AutG6539SLC6A12 - 12 306668 C A 0 0 0 1 0 0 1
AutG23085ERC1 - 12 1345953 T C 0 0 0 1 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