Table 2 Enriched and potentially deleterious variants in samples from Wales
From: Regionally enriched rare deleterious exonic variants in the UK and Ireland
ClinVar Variant Allele ID | Gene | Condition | Region | MAFREG | Enrichment (vs MAFNFE) | MAFAVE | HOMALT range |
|---|---|---|---|---|---|---|---|
20826 | SLC7A9 | Cystinuria | Wales S | 0.0039 | 44x | 0.00048 | [4,37] |
133510 | CHEK2 | Hereditary cancer-predisposing syndrome | Wales N Wales S | 0.0051 0.0026 | 43x 22x | 0.00051 | [2,18] [3,16] |
71108 | NPHS1 | Finnish congenital nephrotic syndrome | Wales S | 0.0025 | 42x | 0.00031 | [2,15] |
16142 | AGL | Glycogen Storage Disease Type III | Wales S | 0.0009 | 32x | 0.00015 | [0,2] |
815895 | SMARCAL1 | Schimke immuno-osseous dysplasia | Wales S | 0.0012 | 28x | 0.00015 | [0,3] |
203537 | GAMT | Deficiency of guanidinoacetate methyltransferase | Wales S | 0.0017 | 19x | 0.00029 | [1,7] |
27983 | SPR | Dystonia | Wales S | 0.0019 | 16x | 0.00025 | [1,9] |
105746 | CEP290 | Leber congenital amaurosis | Wales S | 0.0014 | 14x | 0.00029 | [1,5] |
414917 | MME | Charcot-Marie-Tooth disease, axonal, type 2 T | Wales S | 0.0015 | 5.2x | 0.00044 | [2,5] |
