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
AutG55835CENPJ - 13 25486801 G C 0 0 1 0 0 0 1
AutG4285MIPEP - 13 24436437 TA TAA 0 0 1 0 0 0 1
AutG26278SACS - 13 23914892 C G 0 0 1 0 0 0 1 Positive
AutG26278SACS - 13 23905698 A G 0 0 1 0 0 0 1 Positive
AutGMICU2 - 13 22096779 GAAA GAA 0 0 1 0 0 0 1
AutG64328XPO4 - 13 21370323 G A 0 0 1 0 0 0 1
AutG7750ZMYM2 - 13 20641159 GTAA - 0 0 1 0 0 0 1
AutG54737MPHOSPH8 - 13 20235898 C T 0 0 1 0 0 0 1
AutG7278TUBA3C - 13 19748039 G A 0 0 1 0 0 0 1
AutG10795ZNF268 - 12 133779856 T G 0 0 1 0 0 0 1
AutG2802GOLGA3 - 12 133381371 C S 0 0 1 0 0 0 1
AutG192111PGAM5 - 12 133297372 G A 0 0 1 0 0 0 1
AutG57634EP400 - 12 132498194 C T 0 0 1 0 0 0 1
AutG57634EP400 - 12 132466931 A ATCCC 0 0 1 0 0 0 1
AutG283383GPR133 - 12 131590314 C T 0 0 1 0 0 0 1
AutG5901RAN - 12 131359121 C T 0 0 1 0 0 0 1 Positive
AutG23504RIMBP2 - 12 130935769 CG C 0 0 1 0 0 0 1
AutG121256TMEM132D - 12 129763345 C T 0 0 1 0 0 0 1
AutG121256TMEM132D - 12 129581773 C T 0 0 1 0 0 0 1
AutG92293TMEM132C - 12 128807885 C T 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