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
AutGSLC9C2 - 1 173490530 G A 0 0 1 0 0 0 1
AutG26052DNM3 - 1 172084189 A G 0 0 1 0 0 0 1
AutG4653MYOC - 1 171621313 G A 0 0 1 0 0 0 1
AutGPRRC2C - 1 171567574 G A 0 0 1 0 0 0 1
AutG92344GORAB - 1 170508470 C T 0 0 1 0 0 0 1
AutG6403SELP - 1 169576253 C G 0 0 1 0 0 0 1
AutG481ATP1B1 - 1 169096506 C T 0 0 1 0 0 0 1
AutG481ATP1B1 - 1 169094277 G A 0 0 1 0 0 0 1
AutG9019MPZL1 - 1 167691899 G T 0 0 1 0 0 0 1
AutG92241RCSD1 - 1 167654679 C A 0 0 1 0 0 0 1
AutG5087PBX1 - 1 164790805 C T 0 0 1 0 0 0 1 Positive
AutG5087PBX1 - 1 164769051 G C 0 0 1 0 0 0 1 Positive
AutG5087PBX1 - 1 164532514 GT G 0 0 1 0 0 0 1
AutG4921DDR2 - 1 162737120 A R 0 0 1 0 0 0 1
AutG25903OLFML2B - 1 161989809 G A 0 0 1 0 0 0 1
AutG27005USP21 - 1 161130734 C T 0 0 1 0 0 0 1
AutG257106ARHGAP30 - 1 161017762 G A 0 0 1 0 0 0 1
AutG23385NCSTN - 1 160327962 C T 0 0 1 0 0 0 1
AutG1314COPA - 1 160281685 T C 0 0 1 0 0 0 1
AutG844CASQ1 - 1 160164024 C T 0 0 1 0 0 0 1

Page Counts: 188/584  
188 First  Previous  187  188  189  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