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
AutG5649RELNrs3025970 - - - - 0 1 0 0 0 0 1 Negative
AutG2904GRIN2Brs3026174 1 13713784 C C 0 1 0 0 0 0 1 Negative
AutG5187PER1rs3027178 1 8053085 T A 0 1 0 0 0 0 1 Positive
AutG4128MAOArs3027407 X 43604841 A A 0 1 0 0 0 0 1 Negative
AutG7534YWHAZrs3100053 8 101944559 T A 0 1 0 0 0 0 1 Positive
AutG2903GRIN2Ars3104703 1 10065136 T G 0 1 0 0 0 0 1 Negative
AutG7534YWHAZrs3105452 8 101943618 A C 0 1 0 0 0 0 1 Positive
AutG3655ITGA6rs3108779 2 173295297 G G 0 1 0 0 0 0 1 Negative
AutG3655ITGA6rs3115745 2 173296624 A A 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs3118059 1 58235497 A A 0 1 0 0 0 0 1 Positive
AutG5307PITX1rs31210 - - - - 0 1 0 0 0 0 1 Positive
AutG7534YWHAZrs3134358 8 101958433 G G 0 1 0 0 0 0 1 Positive
AutG40ACCN1rs319783 1 31514911 A A 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs3212333 1 27013381 G C 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs3212337 1 27011111 C A 0 1 0 0 0 0 1 Positive
AutG2898GRIK2rs3213607 6 102483356 C A 0 1 0 0 0 0 1 Positive
AutG5649RELNrs3213611 - - - - 0 1 0 0 0 0 1 Positive
AutG55567DNAH3rs330150 1 21051209 G C 0 1 0 0 0 0 1 Negative
AutG27040LAT1rs33914778 - - - - 0 1 0 0 0 0 1 Negative
AutG4233METrs33917957 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 44/584  
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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