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
AutG153222CREBRF - 5 172550144 A G 0 0 0 1 0 0 1
AutG56940DUSP22 - 6 345911 G C 0 0 0 1 0 0 1
AutG63971KIF13A - 6 17809126 C T 0 0 0 1 0 0 1 Positive
AutG7915ALDH5A1 - 6 24505151 G A 0 0 0 1 0 0 1 Positive
AutG7407VARS - 6 31749930 C G 0 0 0 1 0 0 1
AutG340204CLPSL1 - 6 35755695 A G 0 0 0 1 0 0 1
AutG285849COX6A1P2 - 6 37012761 C G 0 0 0 1 0 0 1
AutG114781BTBD9 - 6 38561774 A G 0 0 0 1 0 0 1
AutG7942TFEB - 6 41657498 T A 0 0 0 1 0 0 1
AutG29964PRICKLE4 - 6 41751917 G C 0 0 0 1 0 0 1
AutG647024C6orf132 - 6 42073489 C T 0 0 0 1 0 0 1
AutG23304UBR2 - 6 42613210 G A 0 0 0 1 0 0 1 Positive
- 6 43109472 G A 0 0 0 1 0 0 1
AutG25844YIPF3 - 6 43479853 C T 0 0 0 1 0 0 1
AutG25844YIPF3 - 6 43480885 C T 0 0 0 1 0 0 1
AutG54511HMGCLL1 - 6 55364076 G C 0 0 0 1 0 0 1
AutG3617IMPG1 - 6 76660802 C T 0 0 0 1 0 0 1
AutG55122AKIRIN2 - 6 88385638 C T 0 0 0 1 0 0 1
AutG6885MAP3K7 - 6 91226345 G A 0 0 0 1 0 0 1 Positive
- 6 102247525 T C 0 0 0 1 0 0 1

Page Counts: 432/584  
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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