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
AutG100422849MIR548T - 12 85184868 G A 0 0 1 0 0 0 1
AutG6857SYT1 - 12 79689961 C G 0 0 1 0 0 0 1 Positive
AutG89795NAV3 - 12 78511923 G T 0 0 1 0 0 0 1
AutG144455E2F7 - 12 77788440 C A 0 0 1 0 0 0 1
AutG144455E2F7 - 12 77788439 G C 0 0 1 0 0 0 1
AutG1466CSRP2 - 12 77345824 T G 0 0 1 0 0 0 1
AutG144321GLIPR1L2 - 12 75796795 A C 0 0 1 0 0 0 1
AutG196441ZFC3H1 - 12 72017249 T C 0 0 1 0 0 0 1
AutG5801PTPRR - 12 71092102 T A 0 0 1 0 0 0 1
AutG5787PTPRB - 12 70946590 C T 0 0 1 0 0 0 1 Positive
AutG27345KCNMB4 - 12 70824293 CATG C 0 0 1 0 0 0 1
AutG144453BEST3 - 12 70087547 G T 0 0 1 0 0 0 1 Positive
AutG4193MDM2 - 12 69233432 G R 0 0 1 0 0 0 1
AutG4193MDM2 - 12 69210702 A C 0 0 1 0 0 0 1
AutG56890MDM1 - 12 68696451 G T 0 0 1 0 0 0 1
AutG55832CAND1 - 12 67874040 C T 0 0 1 0 0 0 1
AutG23592LEMD3 - 12 65639657 A C 0 0 1 0 0 0 1 Positive
AutG23329TBC1D30 - 12 65269243 - - 0 0 1 0 0 0 1
AutG283349RASSF3 - 12 65082212 CGTT C 0 0 1 0 0 0 1
AutG29110TBK1 - 12 64890764 C T 0 0 1 0 0 0 1

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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