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
AutG121278TPH2rs1386498 1 72398143 A A 0 1 0 0 0 0 1 Positive
AutG57502NLGN4Xrs139034847 X 5827331 C C 0 1 0 0 0 0 1
AutG6863TAC1rs1397202 - - - - 0 1 0 0 0 0 1 Negative
AutG11000SLC27A3rs140637267 - - - - 0 1 0 0 0 0 1 Negative
AutG6447SCG5rs1406387 1 32958711 C A 0 1 0 0 0 0 1 Negative
AutG2558GABRA5rs140682 1 27182357 T C 0 1 0 0 0 0 1 Negative
AutG2558GABRA5rs140685 1 27188459 C C 0 1 0 0 0 0 1 Negative
AutG6532SLC6A4rs140700 1 28543389 C A 0 1 0 0 0 0 1
AutG6532SLC6A4rs140701 1 28538532 C A 0 1 0 0 0 0 1
AutG2898GRIK2rs1415482 6 102157814 G G 0 1 0 0 0 0 1 Positive
AutG11000SLC27A3rs141932545 - - - - 0 1 0 0 0 0 1 Negative
AutG2904GRIN2Brs1421108 1 14131558 G A 0 1 0 0 0 0 1
AutG11000SLC27A3rs142189417 - - - - 0 1 0 0 0 0 1 Negative
AutG11000SLC27A3rs142414300 - - - - 0 1 0 0 0 0 1 Negative
AutG11000SLC27A3rs143078987 - - - - 0 1 0 0 0 0 1 Negative
AutG6263RYR3rs1435118 1 33865455 G C 0 1 0 0 0 0 1 Negative
AutG4916NTRK3rs1435403 1 88437069 A C 0 1 0 0 0 0 1 Positive
AutG4684NCAM1rs1436109 1 112991618 G A 0 1 0 0 0 0 1 Positive
AutG2055CLN8rs143701028 8 1719543 C C 0 1 0 0 0 0 1 Negative
AutG11000SLC27A3rs143908472 - - - - 0 1 0 0 0 0 1 Negative

Page Counts: 88/584  
88 First  Previous  87  88  89  Next  Last

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