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
AutG6335SCN9A - 2 167160823 - AA 0 0 0 0 1 0 1 Positive
AutG57448BIRC6 - 2 32660650 C T 0 0 0 0 1 0 1 Positive
AutG5118PCOLCE - 7 100204202 C - 0 0 0 0 1 0 1 Positive
AutG2617GARS - 7 30661041 T - 0 0 0 0 1 0 1 Positive
AutG1135CHRNA2 - 8 27320967 G T 0 0 0 0 1 0 1 Positive
AutGTENM1 - X 123525924 C T 0 0 0 0 1 0 1 Positive
AutG1756DMD - X 31881908 - - 0 0 0 0 1 0 1 Positive
AutG1821DRP2 - X 100503119 G T 0 0 0 0 1 0 1
AutG114928GPRASP2 - X 101972234 - - 0 0 0 0 1 0 1 Positive
AutG57529RGAG1 - X 109695812 C T 0 0 0 0 1 0 1
AutG4281MID1 - X 11009314 T C 0 0 0 0 1 0 1
AutG4281MID1 - X 11009415 G - 0 0 0 0 1 0 1
AutG90293KLHL13 - X 117251283 G A 0 0 0 0 1 0 1 Negative
AutG57481KIAA1210 - X 118250487 G T 0 0 0 0 1 0 1 Positive
AutG643311CT47B1 - X 120009218 - - 0 0 0 0 1 0 1 Negative
AutGTENM1 - X 123598335 T C 0 0 0 0 1 0 1
AutGTENM1 - X 123981853 A G 0 0 0 0 1 0 1
AutG10178ODZ1 - X 124028159 C A 0 0 0 0 1 0 1 Positive
AutGTENM1 - X 124173665 G T 0 0 0 0 1 0 1
AutG3547IGSF1 - X 130411844 A G 0 0 0 0 1 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