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
AutG2918GRM8rs2237731 - - - - 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs2239338 1 24229809 G A 0 1 0 0 0 0 1 Positive
AutG5329PLAURrs2239372 1 44162954 A A 0 1 0 0 0 0 1 Positive
AutG7529YWHABrs2239535 2 43516156 G A 0 1 0 0 0 0 1 Positive
AutG57149LYRM1rs2239946 1 20929800 T C 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2240965 - - - - 0 1 0 0 0 0 1 Positive
AutG2571GAD1rs2241165 2 171678379 C A 0 1 0 0 0 0 1 Negative
AutG7040TGFB1rs2241715 1 41856886 A G 0 1 0 0 0 0 1 Negative
AutG3142HLXrs2247213 - - - - 0 1 0 0 0 0 1 Negative
AutG26047CNTNAP2rs2251798 1 48851427 A C 0 1 0 0 0 0 1 Positive
AutG5860QDPRrs2252995 4 17490340 T G 0 1 0 0 0 0 1 Negative
AutG26047CNTNAP2rs2253031 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs2253641 - - - - 0 1 0 0 0 0 1 Positive
AutG5187PER1rs2253820 1 8048169 T A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs2254298A - - - - 0 1 0 0 0 0 1
AutG4843NOS2rs2255929 1 26087967 T A 0 1 0 0 0 0 1 Positive
AutG5649RELNrs2256658 - - - - 0 1 0 0 0 0 1 Positive
AutG3927LASP1rs226216 1 37033996 G A 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2267891 - - - - 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs2268498 3 8812411 T C 0 1 0 0 0 0 1 Positive

Page Counts: 33/584  
33 First  Previous  32  33  34  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