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
AutG84179MFSD7 - 4 675887 C G 0 0 1 0 0 0 1
AutG10417SPON2 - 4 1161406 A G 0 0 1 0 0 0 1 Positive
AutG10417SPON2 - 4 1164292 C T 0 0 1 0 0 0 1 Positive
AutGUVSSA - 4 1348625 C T 0 0 1 0 0 0 1 Positive
AutG57654KIAA1530 - 4 1377656 A C 0 0 1 0 0 0 1
AutG7468WHSC1 - 4 1944041 T C 0 0 1 0 0 0 1
AutG353497POLN - 4 2129967 G A 0 0 1 0 0 0 1
AutG10608MXD4 - 4 2259719 C T 0 0 1 0 0 0 1 Positive
AutG57732ZFYVE28 - 4 2296449 C T 0 0 1 0 0 0 1
AutG8602NOP14 - 4 2940996 C T 0 0 1 0 0 0 1 Positive
AutG2868GRK4 - 4 3009577 G A 0 0 1 0 0 0 1
AutG6002RGS12 - 4 3317988 G A 0 0 1 0 0 0 1 Positive
AutG6002RGS12 - 4 3441281 G A 0 0 1 0 0 0 1 Positive
AutG166793ZBTB49 - 4 4303826 A T 0 0 1 0 0 0 1
AutG152789JAKMIP1 - 4 6050571 C T 0 0 1 0 0 0 1
AutG152789JAKMIP1 - 4 6114519 T C 0 0 1 0 0 0 1 Positive
AutG93621MRFAP1 - 4 6642942 T A 0 0 1 0 0 0 1 Positive
AutG9778KIAA0232 - 4 6843914 C T 0 0 1 0 0 0 1
AutG57537SORCS2 - 4 7716910 C T 0 0 1 0 0 0 1
AutG60312AFAP1 - 4 7840289 C T 0 0 1 0 0 0 1

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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