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
AutG64800EFCAB6 - 22 43933284 CCT C 0 0 1 0 0 0 1
AutG25813SAMM50 - 22 44364589 T G 0 0 1 0 0 0 1
AutG25813SAMM50 - 22 44372025 C T 0 0 1 0 0 0 1
AutG7477WNT7B - 22 46372611 C T 0 0 1 0 0 0 1
AutGCDPF1 - 22 46643133 A T 0 0 1 0 0 0 1
AutGCDPF1 - 22 46643134 T G 0 0 1 0 0 0 1
AutGCDPF1 - 22 46643135 G C 0 0 1 0 0 0 1
AutG51512GTSE1 - 22 46704222 T C 0 0 1 0 0 0 1
AutG9620CELSR1 - 22 46795678 T G 0 0 1 0 0 0 1 Positive
AutG23151GRAMD4 - 22 47033763 C T 0 0 1 0 0 0 1
AutG23774BRD1 - 22 50167925 G A 0 0 1 0 0 0 1
AutG9889ZBED4 - 22 50279386 C Y 0 0 1 0 0 0 1
AutG80305TRABD - 22 50633461 G A 0 0 1 0 0 0 1 Positive
AutG23654PLXNB2 - 22 50727283 A C 0 0 1 0 0 0 1
AutG9701PPP6R2 - 22 50857408 C T 0 0 1 0 0 0 1 Positive
AutG6305SBF1 - 22 50899099 C T 0 0 1 0 0 0 1
AutG6305SBF1 - 22 50901032 G R 0 0 1 0 0 0 1
AutG113730KLHDC7B - 22 50987405 C T 0 0 1 0 0 0 1
AutG1375CPT1B - 22 51015426 G A 0 0 1 0 0 0 1
AutG85358SHANK3 - 22 51137146 G A 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