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
AutG6532SLC6A4rs2020933 1 28561755 A A 0 1 0 0 0 0 1 Positive
AutG6532SLC6A4rs2020935 1 28561455 T A 0 1 0 0 0 0 1 Positive
AutG6532SLC6A4rs2020939 1 28550732 G C 0 1 0 0 0 0 1 Positive
AutG6532SLC6A4rs2020940 1 28549980 C A 0 1 0 0 0 0 1 Positive
AutG6532SLC6A4rs2020941 1 28549958 C A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs2023671 1 23849839 G G 0 1 0 0 0 0 1 Positive
AutG627BDNFrs2030324 1 27726915 A C 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs20318 1 27018797 G C 0 1 0 0 0 0 1 Negative
AutG8837CFLARrs2041765 2 202023160 G C 0 1 0 0 0 0 1 Negative
AutG124152IQCKrs2047889 1 19777705 C G 0 1 0 0 0 0 1 Negative
AutG627BDNFrs2049045 1 27694241 G A 0 1 0 0 0 0 1 Negative
AutG627BDNFrs2049046 1 27723775 T A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs2051684 1 24170975 C C 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2052314 - - - - 0 1 0 0 0 0 1 Positive
AutG10380BPNT1rs2053250 - - - - 0 1 0 0 0 0 1 Negative
AutG3690ITGB3rs2056131 1 45333743 A C 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs2061051 1 27520811 G A 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs2063087 1 7624831 A A 0 1 0 0 0 0 1 Negative
AutG1021CDK6rs2069456 - - - - 0 1 0 0 0 0 1 Positive
AutG5054SERPINE1rs2070682 - - - - 0 1 0 0 0 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