Table 1.
Chr | Gene
Region |
Positiona | Transcript
variant |
Protein
variant |
Translation
Impact |
SCZ
(n=370) |
ASD
(n=192) |
our
cohort MAFb |
dsSNPIDc | 1000
Genomes Frequency |
gnomADb | jMorp
(4.7KJPN)b |
HGVD
Frequency |
21 | Exonic | 34399267 | c.97G>A | p.A33T | missense | 0 | 2 | 0.0017 | rs1375013666 | — | 0.000004 | 0.0001 | — |
Chr: chromosome
SCZ: schizophrenia
ASD: autism spectrum disorders
MAF: minor allele frequency
gnomAD: The Genome Aggregation Database Exome Aggregation Consortium
jMorp: Japanese Multi Omics Reference Panel
HGVD: Human Genetic Variation Database
a Genomic position based on NCBI build GRCh 37 (Transcript ID ENST00000333337.3)
b minor allele count/total allele count
c dbSNP Build 153