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
AutG2904GRIN2B - 12 14019043 - GGGGGGGGC 0 0 1 0 0 0 1
AutG2904GRI2B - 12 13877293 C - 0 0 1 0 0 0 1
AutG2904GRI2B - 12 13873495 C - 0 0 1 0 0 0 1
AutG2904GRI2B - 12 13831686 T - 0 0 1 0 0 0 1
AutG2904GRIN2B - 12 13768560 C Y 0 0 1 0 0 0 1 Positive
AutG2904GRI2B - 12 13768560 C T 0 0 1 0 0 0 1 Positive
AutG2904GRIN2B - 12 13768551 C T 0 0 1 0 0 0 1 Positive
AutG2904GRIN2B - 12 13768467 C G 0 0 1 0 0 0 1 Positive
AutG2904GRIN2B - 12 13768147 G A/G 0 0 1 0 0 0 1
AutG2904GRIN2B - 12 13768129 A C 0 0 1 0 0 0 1 Positive
AutG2904GRIN2B - 12 13764762 C Y 0 0 1 0 0 0 1
AutG2904GRI2B - 12 13764762 C T 0 0 1 0 0 0 1
AutG2904GRIN2B - 12 13722953 T Y 0 0 1 0 0 0 1
AutG2904GRIN2B - 12 13722953 - - 0 0 1 0 0 0 1
AutG2904GRIN2B - 12 13720165 - T 0 0 1 0 0 0 1
AutG54682MANSC1 - 12 12483250 T C 0 0 1 0 0 0 1
AutG4040LRP6 - 12 12288208 C T 0 0 1 0 0 0 1 Positive
AutG5545PRB4 - 12 11461769 G T 0 0 1 0 0 0 1
AutG50839TAS2R10 - 12 10978472 T W 0 0 1 0 0 0 1
AutG64581CLEC7A - 12 10280034 G A 0 0 1 0 0 0 1

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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