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
AutG8476CDC42BPArs595932 - - - - 0 1 0 0 0 0 1 Negative
AutG438ASMTrs5989681 Y 1683892 G C 0 1 0 0 0 0 1 Negative
AutG1399CRKLrs6004917 2 21275859 G A 0 1 0 0 0 0 1 Negative
AutG6714SRCrs6018100 2 35999882 G A 0 1 0 0 0 0 1 Negative
AutG7472WNT2rs60356864 - - - - 0 1 0 0 0 0 1 Positive
AutG5020OXTrs6084258 2 3048495 G A 0 1 0 0 0 0 1 Positive
AutG5054SERPINE1rs6090 - - - - 0 1 0 0 0 0 1 Positive
AutG5020OXTrs6133010 2 3050301 A A 0 1 0 0 0 0 1 Positive
AutG7436VLDLRrs6149 9 2635545 G A 0 1 0 0 0 0 1 Negative
AutG7166TPH1rs623143 1 18008376 T C 0 1 0 0 0 0 1 Positive
AutG7166TPH1rs623580 1 18063977 A A 0 1 0 0 0 0 1 Positive
AutG367ARrs6253 1 28115941 C A 0 1 0 0 0 0 1 Negative
AutG6462SHBGrs6259 1 7536527 G A 0 1 0 0 0 0 1 Positive
AutG3350HTR1Ars6295 5 63258565 C C 0 1 0 0 0 0 1 Negative
AutG3351HTR1Brs6296 6 78172260 C C 0 1 0 0 0 0 1 Negative
AutG3352HTR1Drs6300 1 23519633 A C 0 1 0 0 0 0 1 Negative
AutG3358HTR2Crs6318 X 113965735 G C 0 1 0 0 0 0 1 Negative
AutG3361HTR5Ars6320 - - - - 0 1 0 0 0 0 1 Positive
AutG22871NLGN1rs635255 3 173198359 T A 0 1 0 0 0 0 1 Positive
AutG5187PER1rs6416892 1 8042860 T G 0 1 0 0 0 0 1 Positive

Page Counts: 61/584  
61 First  Previous  60  61  62  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