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
AutG338APOB - 2 21229188 T G 0 0 2 0 0 0 2 Positive
AutG1788DNMT3A - 2 25466800 G A 0 0 2 0 0 0 2
AutG6683SPAST - 2 32361662 CT C 0 0 2 0 0 0 2
AutG55133SRBD1 - 2 45778322 T A 0 0 2 0 0 0 2 Positive
AutG9378NRXN1 - 2 50733692 C T 0 0 2 0 0 0 2 Positive
AutG84168ANTXR1 - 2 69409650 C T 0 0 2 0 0 0 2 Positive
AutG27332ZNF638 - 2 71635358 C G 0 0 2 0 0 0 2
AutG56603CYP26B1 - 2 72362470 G A 0 0 2 0 0 0 2
AutG7840ALMS1 - 2 73800198 A C 0 0 2 0 0 0 2
AutG129804FBLN7 - 2 112922678 G A 0 0 2 0 0 0 2
AutG151188ARL6IP6 - 2 153575211 C G 0 0 2 0 0 0 2
AutG10716TBR1 - 2 162274307 G T 0 0 2 0 0 0 2 Positive
AutG10716TBR1 - 2 162275553 A C 0 0 2 0 0 0 2 Positive
AutG6326SCN2A - 2 166183403 T TA 0 0 2 0 0 0 2
AutG4036LRP2 - 2 170030556 G C 0 0 2 0 0 0 2 Positive
AutG91752ZNF804A - 2 185798420 C T 0 0 2 0 0 0 2 Positive
AutG56171DNAH7 - 2 196640603 A C 0 0 2 0 0 0 2
AutGPHOCN - 2 198388394 C T 0 0 2 0 0 0 2
AutG57404CYP20A1 - 2 204161598 A G 0 0 2 0 0 0 2
AutG2335FN1 - 2 216259404 C T 0 0 2 0 0 0 2 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