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
AutG3655ITGA6rs1920984 2 173297425 T A 0 1 0 0 0 0 1 Negative
AutG1407CRY1rs1921126 1 107411605 C C 0 1 0 0 0 0 1 Negative
AutG2744GLSrs1921910 2 191723932 T G 0 1 0 0 0 0 1 Negative
AutG3356HTR2Ars1923882 1 47411661 C C 0 1 0 0 0 0 1 Negative
AutG4139MARK1rs1933008 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs193687 - - - - 0 1 0 0 0 0 1 Positive
AutG2739GLO1rs1937780 6 38674450 G C 0 1 0 0 0 0 1 Negative
-rs194800 1 23774568 T C 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs195990 1 23946385 C A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs195992 1 24017634 C C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs196009 1 23977949 T A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs196014 1 23989600 G G 0 1 0 0 0 0 1 Positive
AutG151126ZNF385Brs1964081 2 180591421 T A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs1971937 3 178318745 A A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs1976194 1 24061449 T C 0 1 0 0 0 0 1 Positive
AutG4664NAB1rs1978273 2 191532039 G C 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs198138 1 24190784 T C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs198143 1 24200584 T C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs198145 1 24202615 A A 0 1 0 0 0 0 1 Positive
-rs198148 1 24234898 T C 0 1 0 0 0 0 1 Negative

Page Counts: 26/584  
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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