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
AutG4772NFATC1 - 18 77160481 T G 0 0 1 0 0 0 1
AutG4772NFATC1 - 18 77191333 G A 0 0 1 0 0 0 1
AutG9150CTDP1 - 18 77464903 C A 0 0 1 0 0 0 1 Positive
AutG9150CTDP1 - 18 77596764 C T 0 0 1 0 0 0 1
AutG22850ADNP2 - 18 77895382 T G 0 0 1 0 0 0 1 Positive
AutG8174MADCAM1 - 19 501831 G C 0 0 1 0 0 0 1
AutG3004GZMM - 19 548659 C G 0 0 1 0 0 0 1 Positive
AutG610HCN2 - 19 615843 C G 0 0 1 0 0 0 1 Positive
AutG5442POLRMT - 19 630058 G R 0 0 1 0 0 0 1
AutG27006FGF22 - 19 643270 G A 0 0 1 0 0 0 1 Positive
AutG116444GRIN3B - 19 1004871 C Y 0 0 1 0 0 0 1
AutG10347ABCA7 - 19 1063613 G A 0 0 1 0 0 0 1 Positive
AutG23526HMHA1 - 19 1079991 T Y 0 0 1 0 0 0 1
AutG255057C19orf26 - 19 1235958 C T 0 0 1 0 0 0 1
AutG84939MUM1 - 19 1359502 T C 0 0 1 0 0 0 1
AutG6209RPS15 - 19 1438831 G T 0 0 1 0 0 0 1 Positive
AutG6929TCF3 - 19 1619177 G GT 0 0 1 0 0 0 1
AutG6929TCF3 - 19 1619177 null T 0 0 1 0 0 0 1
AutG255193C19orf34 - 19 1953406 C T 0 0 1 0 0 0 1
AutG255193C19orf34 - 19 1953503 A G 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