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
AutG23394ADNP - 20 49508976 G A/G 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 49510010 T A/T 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 49510040 G A/G 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 50074564 * +GG/* 0 0 0 0 1 0 1 Positive
AutG8760CDS2 - 20 5140709 GAT - 0 0 0 0 1 0 1
AutG8760CDS2 - 20 5140721 T A 0 0 0 0 1 0 1
AutG1522CTSZ - 20 57572709 A G 0 0 0 0 1 0 1
AutG128611ZNF831 - 20 57766673 C T 0 0 0 0 1 0 1
AutG60437CDH26 - 20 58559852 G T 0 0 0 0 1 0 1
AutG164312LRRN4 - 20 6022734 G T 0 0 0 0 1 0 1
AutG3911LAMA5 - 20 60902604 C T 0 0 0 0 1 0 1
AutG11054OGFR - 20 61444324 G A 0 0 0 0 1 0 1
AutG11054OGFR - 20 61444939 G C 0 0 0 0 1 0 1
AutG140700SAMD10 - 20 62608720 T G 0 0 0 0 1 0 1
AutG149998LIPI - 21 15524921 C T 0 0 0 0 1 0 1
AutG388813LOC388813 - 21 16093111 A C 0 0 0 0 1 0 1
AutG9510ADAMTS1 - 21 28210457 - - 0 0 0 0 1 0 1 Positive
AutG9875URB1 - 21 33711126 G A 0 0 0 0 1 0 1
AutG9946CRYZL1 - 21 34963495 T C 0 0 0 0 1 0 1
AutG1859DYRK1A - 21 38792661 G A 0 0 0 0 1 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