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
AutG8604SLC25A12rs6724337 2 172735329 C C 0 1 0 0 0 0 1 Negative
AutG6697SPRrs6730083 2 73115997 G A 0 1 0 0 0 0 1 Negative
AutG10651MTX2rs6748172 2 177169918 G A 0 1 0 0 0 0 1 Negative
AutG8604SLC25A12rs6758704 2 172655097 T C 0 1 0 0 0 0 1 Negative
AutG8646CHRDrs6763683 3 184120811 A A 0 1 0 0 0 0 1 Negative
AutG170572HTR3Crs6766410 3 183774762 C A 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs6766917 3 173460008 A A 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs6769495 3 173944878 A A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs6770632 3 8793724 C A 0 1 0 0 0 0 1 Positive
AutG27094KCNMB3rs6781173 3 178988564 T C 0 1 0 0 0 0 1 Negative
AutG5021OXTRrs6791619 3 8829872 C C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs6798240 3 178378283 C A 0 1 0 0 0 0 1 Positive
AutG27094KCNMB3rs6799756 3 178962897 G A 0 1 0 0 0 0 1 Negative
AutG22871NLGN1rs6801792 3 173910486 A A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs6802120 3 178343683 C C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs6807126 3 178576306 C C 0 1 0 0 0 0 1 Positive
AutG170572HTR3Crs6807362 3 183778010 G C 0 1 0 0 0 0 1 Positive
AutG170572HTR3Crs6807670 3 183778298 G A 0 1 0 0 0 0 1 Positive
AutG170572HTR3Crs6808122 3 183772821 G A 0 1 0 0 0 0 1 Positive
AutG9575CLOCKrs6811520 4 56315178 T C 0 1 0 0 0 0 1 Negative

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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