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 13717337 G C/G 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13724727 G A 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13764650 C T 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13764671 C T 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13769519 C C/T 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 13906490 G A 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 13906652 G A 0 0 0 0 1 0 1
AutG2904GRIN2B - 12 14019049 G G/T 0 0 0 0 1 0 1 Positive
AutG2904GRIN2B - 12 14019091 C T 0 0 0 0 1 0 1
AutG51071DERA - 12 16171081 CT AA 0 0 0 0 1 0 1
AutG55885LMO3 - 12 16859839 C - 0 0 0 0 1 0 1
AutG144699FBXL14 - 12 1702929 T G 0 0 0 0 1 0 1
AutG100616279MIR3974 - 12 17939250 G A 0 0 0 0 1 0 1
AutG6660SOX5 - 12 24034451 - A 0 0 0 0 1 0 1
AutG775CACNA1C - 12 2789681 - - 0 0 0 0 1 0 1
AutG775CACNA1C - 12 2800220 A G 0 0 0 0 1 0 1 Positive
AutG7289TULP3 - 12 3047365 G C 0 0 0 0 1 0 1
AutG225ABCD2 - 12 40013392 G C 0 0 0 0 1 0 1
AutG144165PRICKLE1 - 12 42853740 G C 0 0 0 0 1 0 1
AutG144165PRICKLE1 - 12 42862463 C T 0 0 0 0 1 0 1

Page Counts: 458/584  
458 First  Previous  457  458  459  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