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| ID | RSID | PMID | PHENOTYPE | PHENOTYPE ASSOCIATION | ALLELE ORIGIN | CYTOGENIC LOCATION | ALLELE CHANGE | ALLELE INHERITANCE PATTERN | GENE SYMBOL | RESIDUE CHANGE | SNP IMPACT ON GENE FUNCTION | MODEL ORGANISM | CLINICAL IMPACT STATUS | CLINICAL INDICATORS | CLINICAL INTERVENTION | DRUG | DRUG RESPONSE | STUDY POPULATION RELATEDNESS | STUDY POPULATION ORIGIN |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | rs111033232 | 16679490 | Usher Syndromes | Associated | Somatic | - | c.5886_5888delCTT | - | MYO7A | p.Phe1962del | Deleterious | Human | Confirmed | Hearing loss, Vestibular dysfunction, Prepubertal onset of retinitis pigmentosa. | - | - | - | Mixed | Algeria, France, North Africa, Guinea. |
| 2 | rs137852871 | 7883996 | Maple Syrup Urine Disease | Associated | - | - | G to A transition at base 895 | Recessive | BCKDHA | G245R | - | Human | Confirmed | Ketoacidosis, Mental retardation, Neurological impairment | - | - | - | Mixed | Mexican |
| 3 | rs3806471 | 16507104 | Sitosterolemia | Associated | - | 2p21 | T/G | - | ABCG8 | 5' UTR-19 | - | Human | Confirmed | - | - | - | - | - | Caucasian and African-American |
| 4 | rs111033259 | 16963483 | Usher Syndromes | Associated | Somatic | - | - | - | MYO7A | - | Impaired | Human | Confirmed | Hearing loss, vestibular areflexia. | - | - | - | Mixed | - |
| 5 | rs2145231 | 17903292 | Kidney Function Tests | Associated | - | 20 | - | - | - | - | - | Human | Confirmed | - | - | - | - | - | NHLBI's Framingham Heart Study |
| 6 | rs1197850 | 17903302 | Vascular Stiffness | Associated | - | - | - | - | NBEA | - | - | Human | Confirmed | - | - | - | - | - | Framingham Heart Study |
| 7 | rs1590919 | 17903302 | Blood Pressure | Associated | - | - | - | - | - | - | - | Human | Confirmed | - | - | - | - | - | Framingham Heart Study |
| 8 | rs9311171 | 17903302 | Blood Pressure | Associated | - | - | - | - | CTDSPL | - | - | Human | Confirmed | - | - | - | - | - | Framingham Heart Study |
| 9 | rs9311171 | 17903305 | Prostatic Neoplasms | Protective | - | - | - | - | CTDSPL | - | - | Human | Confirmed | - | - | - | - | - | USA |
| 10 | rs16947 | 20925579 | - | - | - | - | TT | - | CYP2D6 | R296C | - | Human | Confirmed | - | - | timolol | Sensetive | Mixed | - |
| 11 | rs16947 | 20925579 | - | - | - | - | CC | - | CYP2D6 | - | - | Human | Confirmed | - | - | timolol | Resistent | Mixed | - |
| 12 | rs1426654 | 17999355 | Skin Pigmentation | Associated | - | - | - | - | SLC24A5 | p.A111T | - | Human | Confirmed | - | - | - | - | - | natural variation in skin pigmentation within a South Asian |
| 13 | rs35829419 | 24142982 | Pulmonary Fibrosis | Pathogenic | Unknown | - | - | - | NLRP3 | Gln705Lys | Gain of function | Human | Confirmed | Increased IL-1β Levels | - | - | - | asbestos-exposed workers | Helsinki, Tampere and Turku |
| 14 | rs4742741 | 18978678 | Tooth Abnormalities | Associated | - | 9q22.3 | - | - | ANKS6 | - | - | Human | Confirmed | - | - | - | - | Family | Philippines |
| 15 | rs4742741 | 18978678 | Cleft Lip | Associated | - | 9q22.3 | - | - | ANKS6 | - | - | Human | Confirmed | - | - | - | - | Family | Philippines |
| 16 | rs2536143 | 18978678 | Tooth Abnormalities | Associated | - | 14q | - | - | DPF3 | - | - | Human | Confirmed | - | - | - | - | Family | Philippines |
| 17 | rs2536143 | 18978678 | Cleft Lip | Associated | - | 14q | - | - | DPF3 | - | - | Human | Confirmed | - | - | - | - | Family | Philippines |
| 18 | rs6763931 | 19197348 | Body Height | Associated | - | - | - | - | ZBTB38 | - | - | Human | Confirmed | - | - | - | - | - | Kosraens |
| 19 | rs2235076 | 22017886 | Autistic Disorder | Associated | - | - | G | - | GRIK2 | - | - | Human | Confirmed | - | - | - | - | - | Caucasian, Asian, Hispanic or Latino, Black or African American, Native Hawaiian or other Pacific Islander, or of mixed ethnicity. Caucasians represented the major ethnicity, with more than two-thirds of families in each sample |
| 20 | rs2023328 | 23663310 | Asthma | Associated | - | 7 | - | - | NPSR1 | - | - | Human | Confirmed | - | - | - | - | - | Chinese population |
| 21 | rs2023328 | 23663310 | Rhinitis, Allergic, Perennial | Associated | - | 7 | - | - | NPSR1 | - | - | Human | Confirmed | - | - | - | - | - | Chinese population |
| 22 | rs1050828 | 23696099 | Erythrocyte Indices | Associated | - | Xq28 | A/G | - | G6PD | V>M | - | Human | Confirmed | The minor allele (A) was associated with a lower RBC count and greater MCV and MCH | - | - | - | Mixed | African-American |
| 23 | rs11856995 | 20585627 | Sneezing | Associated | - | 15 | T/C | - | - | - | - | Human | Confirmed | - | - | - | - | Unrelated | European ancestry |
| 24 | rs2238289 | 20042077 | Hair Color | Associated | - | - | G | - | HERC2 | - | - | Human | Confirmed | - | - | - | - | - | Danish population |
| 25 | rs75543815 | 24944790 | Thiopurine S methyltranferase deficiency | Associated | - | - | 15327A>T | - | TPMT | - | Decreased | Human | Confirmed | - | - | azathioprine | toxic | Mixed | Caucasians, Africanancestry, Hispanics, Asians |
