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
AutG57154SMURF1 - 7 98633340 C T 0 0 1 0 0 0 1
AutG26024PTCD1 - 7 99021500 G A 0 0 1 0 0 0 1
AutG23660ZKSCAN5 - 7 99128899 T C 0 0 1 0 0 0 1
AutG221786FAM200A - 7 99145990 CT C 0 0 1 0 0 0 1
AutG221786FAM200A - 7 99145992 T - 0 0 1 0 0 0 1
AutG1577CYP3A5 - 7 99260477 A G 0 0 1 0 0 0 1
AutG1551CYP3A7 - 7 99305541 C G 0 0 1 0 0 0 1
AutG563AZGP1 - 7 99573612 GA G 0 0 1 0 0 0 1
AutG6878TAF6 - 7 99711308 T C 0 0 1 0 0 0 1
AutG6878TAF6 - 7 99711376 T C 0 0 1 0 0 0 1
AutG10734STAG3 - 7 99802722 T C 0 0 1 0 0 0 1 Positive
AutG56257MEPCE - 7 100028771 G A 0 0 1 0 0 0 1 Positive
AutG2783GNB2 - 7 100274988 G A 0 0 1 0 0 0 1 Positive
AutG64599GIGYF1 - 7 100279943 A G 0 0 1 0 0 0 1
AutG64599GIGYF1 - 7 100282216 C CCATCT 0 0 1 0 0 0 1
AutG56996SLC12A9 - 7 100460363 G A 0 0 1 0 0 0 1
AutG43ACHE - 7 100488870 G A 0 0 1 0 0 0 1 Positive
AutG43ACHE - 7 100491066 G A 0 0 1 0 0 0 1 Positive
AutG43ACHE - 7 100491403 C T 0 0 1 0 0 0 1 Positive
AutG10071MUC12 - 7 100636140 G T 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