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
AutG1586CYP17A1 - 10 104596940 AT A 0 0 1 0 0 0 1
AutG81603TRIM8 - 10 104416554 T TG 0 0 1 0 0 0 1
AutG8729GBF1 - 10 104129511 G A 0 0 1 0 0 0 1 Positive
AutG9221NOLC1 - 10 103917282 T K 0 0 1 0 0 0 1
AutG8861LDB1 - 10 103870671 TG T 0 0 1 0 0 0 1
AutG79803HPS6 - 10 103826022 C T 0 0 1 0 0 0 1
AutG79591C10orf76 - 10 103771485 T C 0 0 1 0 0 0 1 Positive
AutG79591C10orf76 - 10 103608372 C T 0 0 1 0 0 0 1
AutG8945BTRC - 10 103221816 G A 0 0 1 0 0 0 1
AutG57715SEMA4G - 10 102740667 T C 0 0 1 0 0 0 1 Positive
AutG6319SCD - 10 102116547 AC A 0 0 1 0 0 0 1
AutG9033PKD2L1 - 10 102054351 G A 0 0 1 0 0 0 1
AutG23268DNMBP - 10 101731776 C T 0 0 1 0 0 0 1 Positive
AutG23268DNMBP - 10 101637066 C A 0 0 1 0 0 0 1
AutG55361PI4K2A - 10 99426263 C T 0 0 1 0 0 0 1 Positive
AutG84986ARHGAP19 - 10 98994997 - - 0 0 1 0 0 0 1
AutG26148C10orf12 - 10 98744251 G C 0 0 1 0 0 0 1
AutG1791DNTT - 10 98064396 C T 0 0 1 0 0 0 1 Positive
AutG728558LOC728558 - 10 97622262 T C 0 0 1 0 0 0 1
AutG5832ALDH18A1 - 10 97371016 C G 0 0 1 0 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