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
AutG79968WDR76 - 15 44128398 C A 0 0 0 1 0 0 1
AutG2200FBN1 - 15 48752465 G A 0 0 0 1 0 0 1
AutG23741EID1 - 15 49170680 G T 0 0 0 1 0 0 1
AutG23312DMXL2 - 15 51791966 T C 0 0 0 1 0 0 1
AutG9236CCPG1 - 15 55651891 G A 0 0 0 1 0 0 1
AutG64864RFX7 - 15 56388396 C G 0 0 0 1 0 0 1
AutG10845CLPX - 15 65471361 T G 0 0 0 1 0 0 1
AutG84465MEGF11 - 15 66210324 A G 0 0 0 1 0 0 1
- 15 75122518 G A 0 0 0 1 0 0 1
AutG25942SIN3A - 15 75706487 C T 0 0 0 1 0 0 1
AutG64410KLHL25 - 15 86311780 G A 0 0 0 1 0 0 1 Positive
AutG123283TARSL2 - 15 102242560 G A 0 0 0 1 0 0 1
AutG123283TARSL2 - 15 102245954 C T 0 0 0 1 0 0 1
AutG1186CLCN7 - 16 1510938 C T 0 0 0 1 0 0 1
AutG23162MAPK8IP3 - 16 1810500 A T 0 0 0 1 0 0 1
AutG10921RNPS1 - 16 2312406 G C 0 0 0 1 0 0 1
AutG23524SRRM2 - 16 2818164 T A 0 0 0 1 0 0 1
AutG9235IL32 - 16 3117636 C T 0 0 0 1 0 0 1
AutG7727ZNF174 - 16 3452387 C T 0 0 0 1 0 0 1
AutG9093DNAJA3 - 16 4493080 C G 0 0 0 1 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