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
AutG5992RFX4 - 12 107126711 G A 0 0 1 0 0 0 1
AutG55703POLR3B - 12 106821067 C G 0 0 1 0 0 0 1
AutG9891NUAK1 - 12 106461269 G A 0 0 1 0 0 0 1
AutG9891NUAK1 - 12 106460608 G A 0 0 1 0 0 0 1 Positive
AutG84102SLC41A2 - 12 105198950 - - 0 0 1 0 0 0 1
AutG79158GNPTAB - 12 102164185 T C 0 0 1 0 0 0 1 Positive
AutG121599SPIC - 12 101876682 C T 0 0 1 0 0 0 1
AutG160728SLC5A8 - 12 101588900 C T 0 0 1 0 0 0 1
AutG160728SLC5A8 - 12 101584304 C T 0 0 1 0 0 0 1
AutG55681SCYL2 - 12 100709337 G A 0 0 1 0 0 0 1 Positive
AutG317APAF1 - 12 99076979 T Y 0 0 1 0 0 0 1
AutG7112TMPO - 12 98935928 A T 0 0 1 0 0 0 1
AutG10988METAP2 - 12 95867964 T G 0 0 1 0 0 0 1
AutG7334UBE2N - 12 93804590 C T 0 0 1 0 0 0 1 Positive
AutG11163NUDT4 - 12 93792632 G GT 0 0 1 0 0 0 1
AutG643339LOC643339 - 12 93657211 A C 0 0 1 0 0 0 1
AutG574028CLLU1 - 12 93050834 C T 0 0 1 0 0 0 1
AutG25834MGAT4C - 12 86373419 C T 0 0 1 0 0 0 1
AutG84125LRRIQ1 - 12 85626531 T K 0 0 1 0 0 0 1
AutG84125LRRIQ1 - 12 85605029 T C 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