Table 2.
MEN1 Common Polymorphisms (ExAC Database Minor Allele Frequency >0.05%)
| Genomic Location hg19 (dbSNP) |
Codon Change |
Consequence | Annotation | Minor Allele Frequency (%) |
|
|---|---|---|---|---|---|
| 1 | 11:64577552 G/T (rs371192390) | CTG/CTT | p.Leu10Leu | synonymous | 0.07 |
| 2 | 11:64577147 C/T (rs61736636) | AGC/AGT | p.Ser145Ser | synonymous | 2.9 |
| 3 | 11:64575505 G/A (rs607969) | CGG/CAG | p.Arg171Gln | non-synonymous | 1.2 |
| 4 | 11:64572602 C/T (rs2071313) | GAC/GAT | p.Asp418Asp | synonymous | 39.3 |
| 5 | 11:64572560 G/A(rs138770431) | CTG/CTA | p.Leu432Leu | synonymous | 0.1 |
| 6 | 11:64572557 C/T (rs540012) | CAC/CAT | p.His433His | synonymous | 0.72 |
| 7 | 11:64572018 G/A (rs2959656) | GCA/ACA | p.Ala541Thr | non-synonymous | 6.2 |
ExAC: The Exome Aggregation Consortium database spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. dbSNP: Database of Single Nucleotide Polymorphisms. Minor allele frequency (MAF): Frequency of the less (or least) frequent allele in a population (>0.05% considered as a common variant).