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
AutG389400GFRAL - 6 55285960 A G 0 0 0 0 1 0 1
AutG5558PRIM2 - 6 57563112 T A 0 0 0 0 1 0 1
AutG5558PRIM2 - 6 57914599 - A 0 0 0 0 1 0 1
AutG5558PRIM2 - 6 57914604 AG C 0 0 0 0 1 0 1
AutG2162F13A1 - 6 6251120 T A 0 0 0 0 1 0 1
AutG577BAI3 - 6 69685183 C T 0 0 0 0 1 0 1
AutG135154C6orf57 - 6 71298323 C T 0 0 0 0 1 0 1
AutG22999RIMS1 - 6 72596754 C C/T 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72596755 C C/G 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72889552 A A/G 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72892536 T A/T 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72892838 G A/G 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72926929 C C/T 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72945375 A A/T 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72960069 A A/G 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72960957 C C/T 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72967953 C C/T 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72967964 A A/T 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72975161 G A/G 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 72984117 C C/G 0 0 0 0 1 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