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
AutG23195MDN1 - 6 90402347 G C 0 0 1 0 0 0 1
AutG9994CASP8AP2 - 6 90581006 A G 0 0 1 0 0 0 1
AutG84694GJA10 - 6 90605047 A R 0 0 1 0 0 0 1
AutG2045EPHA7 - 6 93965574 T C 0 0 1 0 0 0 1
AutG643432TSG1 - 6 94805672 G A 0 0 1 0 0 0 1
AutG643432TSG1 - 6 95081113 C T 0 0 1 0 0 0 1
AutG643432TSG1 - 6 95230237 T C 0 0 1 0 0 0 1
AutGMMS22L - 6 97627418 A C 0 0 1 0 0 0 1 Positive
AutGFAXC - 6 99771430 G A 0 0 1 0 0 0 1
AutG85015USP45 - 6 99887716 G A 0 0 1 0 0 0 1 Positive
AutG728012LOC728012 - 6 100476441 G A 0 0 1 0 0 0 1
AutG2898GRIK2 - 6 102483286 A G 0 0 1 0 0 0 1
AutG57531HACE1 - 6 105224911 G A 0 0 1 0 0 0 1
AutG639PRDM1 - 6 106536222 C T 0 0 1 0 0 0 1
AutG202AIM1 - 6 106960441 C A 0 0 1 0 0 0 1
AutG57673BEND3 - 6 107419781 C T 0 0 1 0 0 0 1 Positive
AutG84071ARMC2 - 6 109233595 T A 0 0 1 0 0 0 1
AutG27244SESN1 - 6 109309811 T G 0 0 1 0 0 0 1 Positive
AutG51362CDC40 - 6 110547478 G C 0 0 1 0 0 0 1
AutG5980REV3L - 6 111714164 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