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
AutG79747C6orf103rs2226067 - - - - 2 0 0 0 0 0 2 Negative
rs222682 1 24018338 T C 2 0 0 0 0 0 2 Negative
rs2309982 9 74174742 A A 2 0 0 0 0 0 2 Negative
AutG284451ODF3L2rs2392794 1 472149 C C 2 0 0 0 0 0 2 Negative
AutG4645MYO5Brs2457965 1 47643188 C A 2 0 0 0 0 0 2 Negative
AutG200150PLD5rs2580222 - - - - 2 0 0 0 0 0 2 Positive
AutG200150PLD5rs2580237 - - - - 2 0 0 0 0 0 2 Positive
AutG10194TSHZ1rs2581644 1 72987489 T A 2 0 0 0 0 0 2 Negative
AutG23300ATMINrs2602431 1 81070697 A C 2 0 0 0 0 0 2 Negative
AutG1060CENPC1rs2632453 4 68360694 T A 2 0 0 0 0 0 2 Negative
AutG200150PLD5rs2654862 - - - - 2 0 0 0 0 0 2 Positive
AutG200150PLD5rs2809985 - - - - 2 0 0 0 0 0 2 Positive
rs2850611 4 101904205 C A 2 0 0 0 0 0 2 Negative
rs2872090 3 152613883 C C 2 0 0 0 0 0 2 Negative
AutG79811SLTMrs3145 1 59212111 G C 2 0 0 0 0 0 2 Negative
rs3763947 1 22835069 T A 2 0 0 0 0 0 2 Positive
AutG8128ST8SIA2rs3784730 1 92987128 A C 2 0 0 0 0 0 2 Negative
rs389270 2 17295733 T C 2 0 0 0 0 0 2 Negative
AutG54828BCAS3rs3902107 1 59388010 G C 2 0 0 0 0 0 2 Negative
rs3923603 4 145111329 C A 2 0 0 0 0 0 2 Negative

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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