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
AutG7472WNT2rs2285543 - - - - 0 1 0 0 0 0 1 Positive
AutG3082HGFrs2286194 - - - - 0 1 0 0 0 0 1 Negative
AutG8863PER3rs228665 1 7890956 G C 0 1 0 0 0 0 1 Negative
AutG8863PER3rs228688 1 7879130 T A 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs2286946 1 27402547 A C 0 1 0 0 0 0 1 Negative
AutG8140SLC7A5rs2287121 1 87871714 T G 0 1 0 0 0 0 1 Positive
AutG8863PER3rs228729 1 7845695 T A 0 1 0 0 0 0 1 Negative
AutG59345GNB4rs2287310 3 179122918 T A 0 1 0 0 0 0 1 Positive
AutG95681TSGA14rs2287371 - - - - 0 1 0 0 0 0 1 Positive
AutG55699IARS2rs2289190 - - - - 0 1 0 0 0 0 1 Negative
AutG5187PER1rs2289591 1 8048010 C G 0 1 0 0 0 0 1 Positive
AutG23191CYFIP1rs228981 5 98323777 C A 0 1 0 0 0 0 1
AutG406ARNTLrs2290035 1 13407771 T A 0 1 0 0 0 0 1 Negative
AutG51760SYT17rs229018 1 19222713 T G 0 1 0 0 0 0 1 Negative
AutG57502NLGN4Xrs2290488 X 6145855 C A 0 1 0 0 0 0 1 Negative
AutG8914TIMrs2291738 1 56815281 T A 0 1 0 0 0 0 1 Negative
AutG8914TIMrs2291739 1 56814653 G C 0 1 0 0 0 0 1 Negative
AutG9555H2AFYrs2292011 - - - - 0 1 0 0 0 0 1 Positive
AutG6999TDO2rs2292537 4 156839462 C A 0 1 0 0 0 0 1 Positive
AutG3690ITGB3rs2292864 1 45367681 C A 0 1 0 0 0 0 1 Negative

Page Counts: 35/584  
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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