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
AutG773CACNA1Ars2419244 1 13422724 A A 0 1 0 0 0 0 1
AutG7529YWHABrs2425672 2 43526137 A A 0 1 0 0 0 0 1 Positive
AutG7529YWHABrs2425675 2 43534934 G A 0 1 0 0 0 0 1 Positive
AutG814CAMK4rs2434723 5 110583710 G C 0 1 0 0 0 0 1
AutG4762NEUROG1rs245128 - - - - 0 1 0 0 0 0 1 Negative
AutG4363ABCC1rs246221 1 16138322 T C 0 1 0 0 0 0 1 Negative
AutG4642MYO1Drs2470207 1 31237993 G G 0 1 0 0 0 0 1 Positive
-rs2489352 - - - - 0 1 0 0 0 0 1 Negative
AutG5618PRLRrs249522 5 35060319 C A 0 1 0 0 0 0 1 Positive
AutG6338SCNN1Brs250572 1 23385030 G A 0 1 0 0 0 0 1 Negative
AutG5805PTSrs2518352 1 112100683 C C 0 1 0 0 0 0 1 Positive
AutG1621DBHrs2519148 9 136494566 G C 0 1 0 0 0 0 1 Negative
AutG3912LAMB1rs2528658 - - - - 0 1 0 0 0 0 1 Positive
AutG814CAMK4rs252873 5 110491533 C C 0 1 0 0 0 0 1
AutG2561GABRB2rs252965 - - - - 0 1 0 0 0 0 1 Positive
AutG2561GABRB2rs253017 - - - - 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs25408 1 27017537 G C 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs25409 1 27018841 G C 0 1 0 0 0 0 1 Positive
AutG4642MYO1Drs2543967 1 30982039 T A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs2560406 1 24102562 T A 0 1 0 0 0 0 1 Positive

Page Counts: 39/584  
39 First  Previous  38  39  40  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