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
AutG57556SEMA6A - 5 115840614 A T 0 0 2 0 0 0 2
AutG96459FNIP1 - 5 131013499 T C 0 0 2 0 0 0 2
AutG51308REEP2 - 5 137781275 G A 0 0 2 0 0 0 2
AutG57717PCDHB16 - 5 140563351 A G 0 0 2 0 0 0 2 Positive
AutG56104PCDHGB1 - 5 140731183 C T 0 0 2 0 0 0 2
AutG2196FAT2 - 5 150930211 C G 0 0 2 0 0 0 2
AutG3702ITK - 5 156679654 G A 0 0 2 0 0 0 2 Positive
AutG114825PWWP2A - 5 159520099 G A 0 0 2 0 0 0 2
AutG6586SLIT3 - 5 168175351 C A 0 0 2 0 0 0 2
AutG6569SLC34A1 - 5 176824788 C T 0 0 2 0 0 0 2 Positive
AutG282890ZNF311 - 6 28963322 C T 0 0 2 0 0 0 2
AutG170954KIAA1949 - 6 30652620 G C 0 0 2 0 0 0 2
AutG9656MDC1 - 6 30681921 A G 0 0 2 0 0 0 2 Positive
AutG259215LY6G6F - 6 31675849 G A 0 0 2 0 0 0 2
AutG4439MSH5 - 6 31726346 G A 0 0 2 0 0 0 2
AutG8831SYNGAP1 - 6 33408610 TC T 0 0 2 0 0 0 2
AutG23294ANKS1A - 6 34985466 C T 0 0 2 0 0 0 2
AutG23304UBR2 - 6 42627568 C G 0 0 2 0 0 0 2 Positive
AutG57510XPO5 - 6 43492367 T C 0 0 2 0 0 0 2 Positive
AutG26036ZNF451 - 6 57017096 C T 0 0 2 0 0 0 2 Positive

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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