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
AutG10242KCNMB2rs9839672 3 178551697 C C 0 1 0 0 0 0 1 Positive
AutG2049EPHB3rs9846652 3 184287665 C C 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs9847335 3 178357197 A A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs9847348 3 178357223 A A 0 1 0 0 0 0 1 Positive
AutG2049EPHB3rs9854599 3 184271242 A A 0 1 0 0 0 0 1 Negative
AutG2049EPHB3rs9860156 3 184264927 G A 0 1 0 0 0 0 1 Negative
AutG2049EPHB3rs9860415 3 184286171 T C 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs9861190 3 178372037 C A 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs9866445 3 179181386 A A 0 1 0 0 0 0 1 Positive
AutG65061ALS2CR7rs986769 2 202798017 G C 0 1 0 0 0 0 1 Negative
AutG5290PIK3CArs9871768 3 178881493 A A 0 1 0 0 0 0 1 Negative
AutG5021OXTRrs9872310 3 8793381 A A 0 1 0 0 0 0 1 Positive
AutG170572HTR3Crs9872968 3 183802859 A A 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs9877546 3 179137102 T C 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs9877945 3 179123704 A A 0 1 0 0 0 0 1 Positive
AutG8087FXR1rs9882698 3 180582101 C A 0 1 0 0 0 0 1 Positive
AutG627BDNFrs988748 1 27724745 C C 0 1 0 0 0 0 1 Negative
-rs989755 - - - - 0 1 0 0 0 0 1 Negative
AutG146909KIF18Brs9908100 1 43007951 T C 0 1 0 0 0 0 1 Positive
AutG23314SATB2rs991501 2 200308924 C A 0 1 0 0 0 0 1 Negative

Page Counts: 80/584  
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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