Table 2.
Rare disease-susceptible variants (MAF<1%# in Caucasian) in the reference genome
| Disease | Gene | SNP | Allele | Type | PubMed |
|---|---|---|---|---|---|
| Acute lymphoblastic leukemia | C12orf5 | rs10849033 | G | near 5′ | 19684603 |
| Asthma | rs10837012 | G | unknown | 19187332 | |
| rs1335159 | C | unknown | 19187332 | ||
| Breast cancer | RRP1B | rs9306160 | T | missense | 19825179 |
| Coronary artery disease | PON2 | rs7493 | G | missense | 12588779 |
| Focal segmental glomerulosclerosis | WT1 | rs2234591 | T | intron | 15687485 |
| Juvenile idiopathic arthritis | SLC26A2 | rs30832 | T | missense | 17393463 |
| Malaria | FAM53B | rs7076268 | C | intron | 19465909 |
| Obesity | rs7173766 | A | unknown | 19584900 | |
| Parkinson’s disease | ADH1C | rs283413 | A | nonsense | 15642852 |
| NUCKS1 | rs823128 | G | intron | 19915575 | |
| Placental abruption | F5 | rs6025 | T | coding-synon | 18277167 |
| Prostate cancer | GDF15 | rs1058587 | C | missense | 16775185 |
| Schizophrenia | rs4568102 | A | unknown | 18347602 | |
| Type 2 diabetes | ARHGEF11 | rs861086 | G | near 5′ | 17369523 |
| Venous thrombosis | F5 | rs6025 | T | coding-synon | 17284699 |
#
MAF (minor allele frequency) was retrieved from the HapMap II and III projects