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
AutG2904GRIN2Brs2193149 1 13706502 G C 0 1 0 0 0 0 1
AutG2904GRIN2Brs219876 1 14081623 A A 0 1 0 0 0 0 1
AutG6638SNRPNrs2201839 1 25145346 C A 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs220573 1 13956734 G A 0 1 0 0 0 0 1
AutG2904GRIN2Brs220575 1 13957286 A A 0 1 0 0 0 0 1
AutG2904GRIN2Brs220583 1 13960743 T C 0 1 0 0 0 0 1
AutG2904GRIN2Brs220597 1 13968186 A A 0 1 0 0 0 0 1
AutG2904GRIN2Brs220599 1 13975298 G A 0 1 0 0 0 0 1
AutG2904GRIN2Brs2216128 1 13883014 G C 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2216259 - - - - 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs2228485 3 8809703 G C 0 1 0 0 0 0 1 Negative
AutG6505SLC1A1rs2228622 9 4564432 G A 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2229864 - - - - 0 1 0 0 0 0 1 Positive
AutG324APCrs2229992 5 112162854 T C 0 1 0 0 0 0 1 Negative
AutG50943FOXP3rs2232365 X 49115886 T A 0 1 0 0 0 0 1 Positive
AutG63974NEUROD6rs2233404 - - - - 0 1 0 0 0 0 1 Negative
AutG135ADORA2Ars2236624 2 24836024 T C 0 1 0 0 0 0 1 Positive
AutG3912LAMB1rs2237696 - - - - 0 1 0 0 0 0 1
AutG2918GRM8rs2237731 - - - - 0 1 0 0 0 0 1 Negative
AutG492ATP2B3rs2239682 X 152818435 G A 0 1 0 0 0 0 1 Negative

Page Counts: 94/584  
94 First  Previous  93  94  95  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