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
AutG54413NLGN3rs180681274 X 70373438 C C 0 1 0 0 0 0 1
AutG4489MT1Ars1827213 - - - - 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs1859767 - - - - 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs1861787 1 14000568 G G 0 1 0 0 0 0 1 Positive
AutG90665TBL1Yrs1865680 Y 6868118 A A 0 1 0 0 0 0 1 Negative
AutG321APBA2rs1873279 1 29245260 A C 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs1881055 X 23383193 C C 0 1 0 0 0 0 1 Negative
AutG54413NLGN3rs190142919 X 70387645 G A 0 1 0 0 0 0 1
AutG2571GAD1rs1978340 2 171670121 G C 0 1 0 0 0 0 1 Negative
AutG1644DDCrs1982406 - - - - 0 1 0 0 0 0 1 Positive
AutG5191PEX7rs2012700 - - - - 0 1 0 0 0 0 1 Positive
AutG2055CLN8rs201670636 8 1719337 T C 0 1 0 0 0 0 1 Negative
AutGDMT1rs2018673 - - - - 0 1 0 0 0 0 1 Positive
AutG1312COMTrs2020917 2 19928884 C C 0 1 0 0 0 0 1 Positive
AutG6532SLC6A4rs2020942 1 28546914 C A 0 1 0 0 0 0 1
AutG7472WNT2rs2024233 - - - - 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs2038379 1 58336058 C C 0 1 0 0 0 0 1 Positive
AutG627BDNFrs2049046 1 27723775 T A 0 1 0 0 0 0 1 Positive
AutG3912LAMB1rs20556 - - - - 0 1 0 0 0 0 1 Positive
AutG8604SLC25A12rs2056202 2 172712480 T C 0 1 0 0 0 0 1 Negative

Page Counts: 92/584  
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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