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
AutG2569GABRR1rs423463 6 89898708 T A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs4238948 1 23976293 A A 0 1 0 0 0 0 1 Positive
AutG8140SLC7A5rs4240803 1 87889203 G A 0 1 0 0 0 0 1 Positive
AutG6530SLC6A2rs42460 1 55737656 G C 0 1 0 0 0 0 1
AutG6340SCNN1Grs4247210 1 23205657 G C 0 1 0 0 0 0 1 Negative
AutG8646CHRDrs4247521 3 184108808 C A 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs425437 - - - - 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs4260410 3 178469932 C C 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs427615 - - - - 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs4290270 1 72416235 A A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs429342 1 24166448 G C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs4307954 1 23890688 T C 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs4322101 9 129428677 A A 0 1 0 0 0 0 1 Positive
AutG54431DNAJC10rs432527 2 183615138 C A 0 1 0 0 0 0 1 Negative
AutG6532SLC6A4rs4325622 1 28526475 T C 0 1 0 0 0 0 1 Negative
AutG2554GABRA1rs4340950 - - - - 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs4341581 1 72335073 G G 0 1 0 0 0 0 1 Negative
AutG25782RAB3GAP2rs4351641 - - - - 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs4354903 1 27339361 A A 0 1 0 0 0 0 1 Negative
AutG1523CUTL1rs436287 - - - - 0 1 0 0 0 0 1 Negative

Page Counts: 54/584  
54 First  Previous  53  54  55  Next  Last

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