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
AutG5579PRKCBrs182068 1 24134683 G C 0 2 0 0 0 0 2 Positive
AutG2568GABRPrs1862242 - - - - 0 2 0 0 0 0 2 Positive
AutG2560GABRB1rs1866989 4 47101105 A A 0 2 0 0 0 0 2 Negative
AutG8604SLC25A12rs1878583 2 172725301 A A 0 2 0 0 0 0 2 Negative
AutG5579PRKCBrs198182 1 24132385 A A 0 2 0 0 0 0 2 Positive
AutG1747DLX3rs1991293 1 48078949 A C 0 2 0 0 0 0 2 Negative
AutG1746DLX2rs2016394 2 172972971 G C 0 2 0 0 0 0 2 Negative
AutG6532SLC6A4rs2020934 1 28561460 A C 0 2 0 0 0 0 2 Positive
AutG7472WNT2rs2024233 - - - - 0 2 0 0 0 0 2 Positive
AutG2562GABRB3rs20317 1 27018937 G C 0 2 0 0 0 0 2 Negative
AutG2557GABRA4rs2055943 4 46967279 C G 0 2 0 0 0 0 2 Positive
AutG2562GABRB3rs2059574 1 26997043 A A 0 2 0 0 0 0 2 Negative
AutG57194ATP10Crs2066704 1 25953442 C A 0 2 0 0 0 0 2 Negative
AutG57194ATP10Crs2066705 1 25937004 C A 0 2 0 0 0 0 2 Negative
AutG4139MARK1rs2069044 - - - - 0 2 0 0 0 0 2 Positive
AutG7054THrs2070762 1 2186335 A C 0 2 0 0 0 0 2 Negative
AutG5649RELNrs2073559 - - - - 0 2 0 0 0 0 2 Positive
AutG1621DBHrs2073837 9 136522928 G C 0 2 0 0 0 0 2 Negative
AutG121278TPH2rs2171363 1 72360264 A C 0 2 0 0 0 0 2 Negative
AutG5021OXTRrs2228485 3 8809703 G C 0 2 0 0 0 0 2 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