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
AutG55707NECAP2 - 1 16778330 - - 0 0 1 0 0 0 1
AutG1188CLCNKB - 1 16376358 - - 0 0 1 0 0 0 1
AutG1188CLCNKB - 1 16375706 G A 0 0 1 0 0 0 1
AutG1187CLCNKA - 1 16352629 A G 0 0 1 0 0 0 1
AutG23013SPEN - 1 16262656 G C 0 0 1 0 0 0 1
AutG23013SPEN - 1 16261227 G C 0 0 1 0 0 0 1
AutG23013SPEN - 1 16258127 C T 0 0 1 0 0 0 1
AutG23013SPEN - 1 16258126 C T 0 0 1 0 0 0 1
AutG23013SPEN - 1 16235920 A C 0 0 1 0 0 0 1 Positive
AutG54751FBLIM1 - 1 16096936 C T 0 0 1 0 0 0 1
AutG84301DDI2 - 1 15956938 T K 0 0 1 0 0 0 1
AutG23341DNAJC16 - 1 15888805 - - 0 0 1 0 0 0 1
AutG11330CTRC - 1 15765077 TG T 0 0 1 0 0 0 1
AutG55092TMEM51 - 1 15545879 C T 0 0 1 0 0 0 1
AutGKAZN - 1 15430600 G A 0 0 1 0 0 0 1 Positive
AutG343066AADACL4 - 1 12726725 C G 0 0 1 0 0 0 1
AutG55187VPS13D - 1 12336770 C T 0 0 1 0 0 0 1 Positive
AutG29914UBIAD1 - 1 11420457 C T 0 0 1 0 0 0 1
AutG2475MTOR - 1 11316137 C T 0 0 1 0 0 0 1 Positive
AutG6723SRM - 1 11115912 C G 0 0 1 0 0 0 1 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