Table 2.
Gene position or SNP effect | Number of SNPs |
---|---|
3 prime UTR variant | 203 |
3 prime UTR variant, NMD transcript variant | 1 |
5 prime UTR variant | 58 |
Downstream gene variant | 2710 |
Intergenic variant | 24414 |
Intron variant | 12591 |
Intron variant, NMD transcript variant | 126 |
Intron variant, noncoding transcript variant | 306 |
Missense variant | 159 |
Missense variant, splice region variant | 8 |
Noncoding transcript exon variant, noncoding transcript variant | 29 |
Splice acceptor variant | 2 |
Splice donor variant | 1 |
Splice region variant, 3 prime UTR variant | 1 |
Splice region variant, intron variant | 25 |
Splice region variant, synonymous variant | 12 |
Stop gained | 2 |
Stop lost | 1 |
Stop retained variant | 1 |
Synonymous variant | 217 |
Synonymous variant, NMD transcript variant | 3 |
Upstream gene variant | 2675 |
Total* | 43545 |
*The sum includes 39,165 variations, 4,380 of which have multiple annotations, for a total of 43,545 SNP annotations.