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
AutG3360HTR4rs2277049 - - - - 0 1 0 0 0 0 1 Positive
AutG2173FABP7rs2279381 - - - - 0 1 0 0 0 0 1 Negative
AutG3358HTR2Crs228440 - - - - 0 1 0 0 0 0 1 Negative
AutG2904GRIN2Brs2284406 1 13825416 T C 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2284411 1 13866172 C C 0 1 0 0 0 0 1
AutG2904GRIN2Brs2284418 1 13943628 T C 0 1 0 0 0 0 1
AutG2904GRIN2Brs2284424 1 13988870 G A 0 1 0 0 0 0 1
AutG2904GRIN2Brs2284425 1 13989019 G G 0 1 0 0 0 0 1
AutG2904GRIN2Brs2284428 1 14009914 A A 0 1 0 0 0 0 1 Positive
AutGDMT1rs2285230 1 51381750 T A 0 1 0 0 0 0 1 Positive
AutG7472WNT2rs2285543 - - - - 0 1 0 0 0 0 1 Positive
AutGLAT1rs2287120 - - - - 0 1 0 0 0 0 1 Positive
AutG1004CDH6rs2287581 5 31305265 C A 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs2288606 1 34028128 C A 0 1 0 0 0 0 1 Negative
AutG4885NPTX2rs2291273 - - - - 0 1 0 0 0 0 1 Negative
AutG57194ATP10Ars2291355 1 25953068 G A 0 1 0 0 0 0 1 Negative
AutG8604SLC25A12rs2292813 2 172644229 T C 0 1 0 0 0 0 1 Negative
AutG6263RYR3rs2293027 1 34015013 G C 0 1 0 0 0 0 1 Negative
AutG375743PTAR1rs2297172 9 72373346 A C 0 1 0 0 0 0 1 Positive
AutG135ADORA2Ars2298383 2 24825511 C A 0 1 0 0 0 0 1 Positive

Page Counts: 96/584  
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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