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
AutG9730VPRBP - 3 51457792 T C 0 0 1 0 0 0 1
AutG23132RAD54L2 - 3 51696843 C T 0 0 1 0 0 0 1
AutG54106TLR9 - 3 52256514 G A 0 0 1 0 0 0 1
AutG11344TWF2 - 3 52263209 ATC A 0 0 1 0 0 0 1
AutG25981DNAH1 - 3 52356651 C T 0 0 1 0 0 0 1
AutG25981DNAH1 - 3 52409336 C T 0 0 1 0 0 0 1 Positive
AutG8314BAP1 - 3 52437518 C T 0 0 1 0 0 0 1 Positive
AutG64943NT5DC2 - 3 52558490 C T 0 0 1 0 0 0 1 Positive
AutG55193PBRM1 - 3 52582238 G A 0 0 1 0 0 0 1
AutG55193PBRM1 - 3 52584431 T C 0 0 1 0 0 0 1
AutG55193PBRM1 - 3 52643512 T Y 0 0 1 0 0 0 1
AutG55193PBRM1 - 3 52643674 G A 0 0 1 0 0 0 1 Positive
AutG26354GNL3 - 3 52727771 A G 0 0 1 0 0 0 1
AutG3699ITIH3 - 3 52836816 A G 0 0 1 0 0 0 1 Positive
AutG389125MUST1 - 3 52867631 A T 0 0 1 0 0 0 1
AutG55802DCP1A - 3 53321635 G A 0 0 1 0 0 0 1
AutG776CACNA1D - 3 53757544 G A 0 0 1 0 0 0 1 Positive
AutG776CACNA1D - 3 53764493 C S 0 0 1 0 0 0 1
AutG55349CHDH - 3 53857760 C T 0 0 1 0 0 0 1
AutG55799CACNA2D3 - 3 54872646 G 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