| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs61759467 |
RCV005913085 |
| Cervical cancer |
Benign; Likely benign |
rs144567251, rs61759467 |
RCV005930146 RCV005913088 |
| CHD1-related disorder |
Likely benign; Uncertain significance; Benign |
rs371891649, rs573978009, rs1275876630, rs2479681445, rs1748204859, rs2479579923, rs142842461, rs138975765, rs138351327, rs200865526, rs376850493, rs377125099, rs34128229, rs2479681935, rs141802026, rs200535497, rs553111541, rs372894251, rs146779749, rs2112522139, rs1210210931, rs201752702, rs202123710, rs61749619 View all (9 more) |
RCV003951341 RCV003918999 RCV003404202 RCV003399933 RCV003414270 RCV003397762 RCV003954192 RCV003929139 RCV003954193 RCV003954194 RCV003966411 RCV003919202 RCV003939004 RCV003911785 RCV003897385 RCV003977185 RCV003979461 RCV003961680 RCV003924434 RCV003936866 RCV003981964 RCV003983580 RCV003966805 RCV003905970 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs61759467 |
RCV005913089 |
| Complex neurodevelopmental disorder |
Likely benign |
rs138351327 |
RCV005356436 |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
rs2479415984, rs2479331415 |
RCV004558121 RCV004558122 |
| Gastric cancer |
Benign; Likely benign |
rs61759467 |
RCV005913091 |
| Hepatocellular carcinoma |
Benign; Likely benign |
rs61759467 |
RCV005913086 |
| Melanoma |
Benign; Likely benign |
rs61759467 |
RCV005913093 |
| Neurodevelopmental abnormality |
Likely benign |
rs1751687577 |
RCV001264681 |
| Neurodevelopmental disorder |
Uncertain significance |
rs2112324458 |
RCV002277642 |
| Nonpapillary renal cell carcinoma |
Benign; Likely benign |
rs61759467 |
RCV005913087 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs144567251 |
RCV005930148 |
| Sarcoma |
Benign; Likely benign |
rs144567251, rs61759467 |
RCV005930147 RCV005913090 |
| See cases |
Uncertain significance |
rs2112435807 |
RCV002252542 |
| Thyroid cancer, nonmedullary, 1 |
Benign; Likely benign |
rs144567251, rs61759467 |
RCV005930149 RCV005913092 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
30656528 |
| Alzheimer Disease |
Associate |
31545826 |
| Apraxias |
Associate |
28866611 |
| Autistic Disorder |
Associate |
28866611 |
| Azoospermia |
Associate |
40215689 |
| Breast Neoplasms |
Associate |
22048254 |
| Carcinoma Hepatocellular |
Associate |
30043858 |
| Developmental Disabilities |
Associate |
28866611 |
| Diabetes Mellitus |
Associate |
31545826 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
29018037 |
| Glioma |
Associate |
31667976 |
| Infections |
Associate |
25297984 |
| Learning Disabilities |
Associate |
28866611 |
| Leukemia Myeloid Acute |
Associate |
25879624, 37041565 |
| Lymphoma |
Associate |
30043858 |
| Mesothelioma Malignant |
Associate |
34638565 |
| Myelodysplastic Syndromes |
Associate |
37041565 |
| Neoplasm Metastasis |
Associate |
30656528, 30989488, 33414516 |
| Neoplasms |
Inhibit |
22179824, 24563616, 30989488, 33414516 |
| Neoplasms |
Associate |
25175909, 25320358, 28166537, 29662167, 30043858, 34168052, 37041565 |
| Pancreatic Neoplasms |
Associate |
22046413 |
| Personality Disorders |
Associate |
33846123 |
| Prostatic Neoplasms |
Associate |
22179824, 22722839, 23917376, 24563616, 25175909, 25189356, 25201530, 29662167, 30068710, 31222142, 31300540, 32763409, 33414516, 33846123, 34168052, 36059000, 36629160 View all (2 more) |
| Prostatic Neoplasms |
Inhibit |
31222142 |
| Prostatic Neoplasms Castration Resistant |
Associate |
23917376, 25320358, 30068710 |
| Prostatitis |
Associate |
22179824, 30656528, 31300540 |
| Purpura Thrombocytopenic Idiopathic |
Associate |
33222560 |
| Sleep Wake Disorders |
Associate |
31545826 |
| Stomach Neoplasms |
Associate |
16555931, 30043858 |
| Stroke |
Associate |
31545826 |
| Thakker Donnai syndrome |
Associate |
28866611 |
|