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
AutG54715A2BP1rs1003614 1 7630143 C C 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs1003615 1 7630218 T C 0 1 0 0 0 0 1 Negative
rs10038113 5 25902342 T C 0 1 0 0 0 0 1
AutG1119CKIrs1005473 2 38694373 A A 0 1 0 0 0 0 1 Negative
AutG218ALDH3A1rs1006556 1 19639715 G C 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs1006679 1 27498213 G A 0 1 0 0 0 0 1 Negative
AutG775CACNA1Crs1006737 1 2345295 G A 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs1007023 1 72388374 G G 0 1 0 0 0 0 1 Negative
-rs1007631 1 87856095 A C 0 1 0 0 0 0 1 Negative
-rs1009608 2 202839429 C A 0 1 0 0 0 0 1 Negative
AutG6733SRPK2rs1010340 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs1011456 1 27293734 G A 0 1 0 0 0 0 1 Negative
-rs1011463 1 23050120 T A 0 1 0 0 0 0 1 Negative
AutG286826LIN9rs10127970 - - - - 0 1 0 0 0 0 1 Negative
AutG2643GCH1rs10133662 1 55316270 A A 0 1 0 0 0 0 1 Negative
AutG4763NF1rs1013948 1 29530709 G A 0 1 0 0 0 0 1 Negative
AutG10242KCNMB2rs1014099 3 178301513 G A 0 1 0 0 0 0 1 Positive
AutG2903GRIN2Ars1014531 1 9855794 G A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs1014632 1 24099744 T A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs1015408 1 24210362 T A 0 1 0 0 0 0 1 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