db SNP ID | Chromosome Position | mRNA position | Heterozygosity | MAF | Allele | Location | Function | Amino-acid change |
---|---|---|---|---|---|---|---|---|
rs372790354 | Chr1:204196427 | – | – | – | G > A | 5 Prime UTR variant | NA | – |
rs12998 | Chr1:204192819 | 212 | 0.093 | 0.023 | G > A | Exon 1 | Non-synonymous | p.Glu20Lys |
rs35431622 | Chr1:204190794 | 261 | 0.103 | 0.075 | A > T | Exon 2 | Non-synonymous | p.Gln36Leu |