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
AutG6326SCN2A - 2 166243261 A A/C 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166245706 T C/T 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166245838 C C/T 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166245867 C C/T 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166246059 G A/G 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166246068 C C/T 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166246144 C C/T 0 0 0 0 1 0 1 Positive
AutG80034CSRNP3 - 2 166350744 G - 0 0 0 0 1 0 1
AutG6323SCN1A - 2 166872170 A G 0 0 0 0 1 0 1
AutG1781DYNC1I2 - 2 172430578 - T 0 0 0 0 1 0 1
AutG51776ZAK - 2 174081896 G C 0 0 0 0 1 0 1
AutG285025CCDC141 - 2 179733939 C T 0 0 0 0 1 0 1
AutG23040MYT1L - 2 1805521 G C/G 0 0 0 0 1 0 1 Positive
AutG10787NCKAP1 - 2 183848038 A A/C 0 0 0 0 1 0 1 Positive
AutG10787NCKAP1 - 2 183867721 C A/C 0 0 0 0 1 0 1 Positive
AutG401024FSIP2 - 2 186654867 G C 0 0 0 0 1 0 1
AutG3685ITGAV - 2 187505657 G A 0 0 0 0 1 0 1
AutG165215FAM171B - 2 187604958 C G 0 0 0 0 1 0 1
AutG23040MYT1L - 2 1893047 C C/T 0 0 0 0 1 0 1 Positive
AutG23040MYT1L - 2 1926150 G A/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