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
AutG55643BTBD2 - 19 1986556 G A 0 0 1 0 0 0 1
AutG8943AP3D1 - 19 2137725 C A 0 0 1 0 0 0 1
AutG126306JSRP1 - 19 2252771 G A 0 0 1 0 0 0 1
AutG4616GADD45B - 19 2477173 T C 0 0 1 0 0 0 1 Positive
AutG2767GNA11 - 19 3118953 C M 0 0 1 0 0 0 1
AutG126321C19orf28 - 19 3546431 G A 0 0 1 0 0 0 1
AutG126321C19orf28 - 19 3547469 G A 0 0 1 0 0 0 1
AutG10362HMG20B - 19 3573739 G A 0 0 1 0 0 0 1
AutG27134TJP3 - 19 3743971 C T 0 0 1 0 0 0 1
AutG116541MRPL54 - 19 3767317 C T 0 0 1 0 0 0 1
AutG23217ZFR2 - 19 3819169 G C 0 0 1 0 0 0 1 Positive
AutG23217ZFR2 - 19 3834874 G A 0 0 1 0 0 0 1
AutG1938EEF2 - 19 3980675 T C 0 0 1 0 0 0 1 Positive
AutG51588PIAS4 - 19 4013122 C A 0 0 1 0 0 0 1
AutG51588PIAS4 - 19 4013176 G A 0 0 1 0 0 0 1
AutG51548SIRT6 - 19 4177045 GCCCCCA G 0 0 1 0 0 0 1
AutG79187FSD1 - 19 4318470 G A 0 0 1 0 0 0 1
AutG55620STAP2 - 19 4334006 G A 0 0 1 0 0 0 1
AutG6455SH3GL1 - 19 4362618 T TG 0 0 1 0 0 0 1
AutG10036CHAF1A - 19 4423882 G A 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