Table 1.
List of Rare Pathogenic Variants in Europeans but Common in Han Chinese.
| Chr | Pos | rsID | Ref | Alt | ClinVar Annotations |
Frequency Information |
||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant Type | Affected Gene | Clinical Significance | Syndrome Name | 1000G CEU | ExAC NFE | ExAC EAS | Han Chinese | |||||
| 3 | 170201230 | rs2276717 | C | T | Missense | SLC7A14 | Pathogenic | Retinitis pigmentosa 68 | 0 | 1.50E-05 | 0.026 | 0.048 |
| 6 | 46677098 | rs76863441 | C | A | Missense | PLA2G7 | Pathogenic | Platelet-activating factor acetylhydrolase deficiency | 0 | 3.50E-04 | 0.064 | 0.063 |
| 12 | 112241766 | rs671 | G | A | Missense | ALDH2 | Pathogenic | Acute alcohol sensitivity | 0 | 6.20E-05 | 0.266 | 0.051 |
| 13 | 20763612 | rs72474224 | C | T | Missense | GJB2 | Likely pathogenic | Nonsyndromic hearing loss and deafness | 0 | 0.002 | 0.072 | 0.056 |
Note.—Of the 15,157 sites in CLINVAR reported as Pathogenic or Likely Pathogenic and found in ExAC, we filtered by frequency of ≤0.01 in ExAC NFE and ≥0.05 in Han Chinese. Frequencies in ExAC East Asians (EAS) are also given for comparisons.