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
AutG23165NUP205 - 7 135333246 - - 0 0 1 0 0 0 1
AutG57670KIAA1549 - 7 138552798 G A 0 0 1 0 0 0 1
AutG254048UBN2 - 7 138958061 C T 0 0 1 0 0 0 1
AutG254048UBN2 - 7 138967816 C G 0 0 1 0 0 0 1
AutG51631LUC7L2 - 7 139102437 C G 0 0 1 0 0 0 1
AutG6916TBXAS1 - 7 139652364 C T 0 0 1 0 0 0 1
AutG4708NDUFB2 - 7 140402787 T C 0 0 1 0 0 0 1 Positive
AutG673BRAF - 7 140481409 A C 0 0 1 0 0 0 1 Positive
AutG55750AGK - 7 141321569 G R 0 0 1 0 0 0 1
AutG50831TAS2R3 - 7 141464367 G A 0 0 1 0 0 0 1
AutG5645PRSS2 - 7 142480014 G C 0 0 1 0 0 0 1
AutG2051EPHB6 - 7 142564780 - - 0 0 1 0 0 0 1
AutG56302TRPV5 - 7 142612052 T G 0 0 1 0 0 0 1 Positive
AutG135932TMEM139 - 7 142983945 C T 0 0 1 0 0 0 1
AutG835CASP2 - 7 142988644 T C 0 0 1 0 0 0 1
AutG135935NOBOX - 7 144094582 C T 0 0 1 0 0 0 1
AutG135935NOBOX - 7 144097259 C T 0 0 1 0 0 0 1
AutG27010TPK1 - 7 144150703 C T 0 0 1 0 0 0 1 Positive
AutG8454CUL1 - 7 148495113 T A 0 0 1 0 0 0 1
AutG57541ZNF398 - 7 148878885 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