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
AutGLINC00507 - 12 128495380 T C 0 0 1 0 0 0 1
AutG114795TMEM132B - 12 126210829 G A 0 0 1 0 0 0 1
AutG57647DHX37 - 12 125465134 T C 0 0 1 0 0 0 1
AutG9612NCOR2 - 12 124887010 T C 0 0 1 0 0 0 1 Positive
AutG9612NCOR2 - 12 124831242 C T 0 0 1 0 0 0 1
AutG196385DNAH10 - 12 124303750 G A 0 0 1 0 0 0 1 Positive
AutG196383RILPL2 - 12 123920711 A G 0 0 1 0 0 0 1 Positive
AutG55206SBNO1 - 12 123798209 T C 0 0 1 0 0 0 1
AutG57605PITPNM2 - 12 123489035 C T 0 0 1 0 0 0 1
AutG57605PITPNM2 - 12 123470840 G A 0 0 1 0 0 0 1
AutGHCAR1 - 12 123213933 - - 0 0 1 0 0 0 1
AutG144406WDR66 - 12 122359408 G A 0 0 1 0 0 0 1
AutG5027P2RX7 - 12 121603240 C T 0 0 1 0 0 0 1 Positive
AutG121665SPPL3 - 12 121206844 C CAGAG 0 0 1 0 0 0 1
AutG51367POP5 - 12 121017378 CT C 0 0 1 0 0 0 1
AutG10985GCN1L1 - 12 120591701 - - 0 0 1 0 0 0 1
AutG51347TAOK3 - 12 118610267 G A 0 0 1 0 0 0 1
AutG4842NOS1 - 12 117657987 C T 0 0 1 0 0 0 1 Positive
AutG23389MED13L - 12 116446528 G A 0 0 1 0 0 0 1
AutG23389MED13L - 12 116443746 CTG C 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