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
AutG9672SDC3 - 1 31346198 C T 0 0 1 0 0 0 1 Positive
AutG4146MATN1 - 1 31194365 G A 0 0 1 0 0 0 1 Positive
AutG10076PTPRU - 1 29587385 C A 0 0 1 0 0 0 1 Positive
AutG2035EPB41 - 1 29379632 G A 0 0 1 0 0 0 1
AutG83667SESN2 - 1 28595739 G R 0 0 1 0 0 0 1
AutG27245AHDC1 - 1 27877086 G A 0 0 1 0 0 0 1 Positive
AutG9064MAP3K6 - 1 27685327 A G 0 0 1 0 0 0 1 Positive
AutG6548SLC9A1 - 1 27440599 C S 0 0 1 0 0 0 1
AutG2810SFN - 1 27190426 G A 0 0 1 0 0 0 1
AutG8289ARID1A - 1 27088806 A T 0 0 1 0 0 0 1
AutG6195RPS6KA1 - 1 26885393 C T 0 0 1 0 0 0 1 Positive
AutG3151HMGN2 - 1 26800626 G T 0 0 1 0 0 0 1
AutG55057AIM1L - 1 26656475 T C 0 0 1 0 0 0 1
AutG149420PDIK1L - 1 26449034 A G 0 0 1 0 0 0 1 Positive
AutG2134EXTL1 - 1 26360172 T G 0 0 1 0 0 0 1
AutG57190SEPN1 - 1 26135190 G T 0 0 1 0 0 0 1
AutG163702IL28RA - 1 24507257 T C 0 0 1 0 0 0 1
AutG2517FUCA1 - 1 24189638 G A 0 0 1 0 0 0 1
AutG10236HNRNPR - 1 23637156 G A 0 0 1 0 0 0 1
AutG2048EPHB2 - 1 23236941 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