| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs61754203, rs35682129 |
RCV005938866 RCV005937201 |
| Autism spectrum disorder |
association |
rs781761645 |
RCV001291265 |
| BIRC6-related disorder |
Uncertain significance; Likely benign; Benign |
rs946303502, rs2042277195, rs2469828797, rs2469398148, rs779941528, rs2473622442, rs774500693, rs764484444, rs144184005, rs61754132, rs150058017, rs151018053, rs2468667636, rs368352862, rs143909151, rs150127918, rs61754197, rs145668508, rs775276590, rs61757641, rs149447533, rs373113978, rs77296550, rs149167251, rs34757266, rs1397390801, rs766592234, rs34417238, rs41291167, rs2044605704, rs147703050, rs115758817, rs61735955, rs373827659, rs2468693670, rs148244969, rs145516075, rs56242351, rs562418075, rs766198069, rs7588124, rs535740674, rs140684752, rs139069401, rs148397523, rs147408011, rs150251309, rs748470867, rs3731580, rs116818533, rs114349611, rs190360702, rs61754203, rs145696137, rs35682129, rs147158028, rs761525396, rs72867263, rs34906338, rs61754198, rs35100455, rs36065012, rs34139419, rs61757640, rs61754200, rs61754202, rs61754241, rs34648875, rs144006143, rs150426823, rs35205055, rs138854140, rs35521138, rs372681614, rs61754194, rs61746815, rs142781350, rs769121041 View all (63 more) |
RCV004747247 RCV003391411 RCV003394479 RCV003399522 RCV003420760 RCV003397599 RCV003414364 RCV003405909 RCV003938973 RCV003929108 RCV003966386 RCV003946585 RCV003909229 RCV003907009 RCV003919596 RCV003919622 RCV003919835 RCV003921848 RCV003921925 RCV003923850 RCV003923984 RCV003929591 RCV003929640 RCV003917294 RCV003974671 RCV003983439 RCV003904392 RCV003974089 RCV003979789 RCV003904030 RCV003912315 RCV003916796 RCV003973859 RCV003979466 RCV003899293 RCV003952055 RCV003959666 RCV003954958 RCV003919536 RCV003931436 RCV003931456 RCV003931462 RCV003931647 RCV003931662 RCV003929425 RCV003924445 RCV003951387 RCV003954771 RCV003971384 RCV003971413 RCV003921945 RCV003921993 RCV003926908 RCV003932064 RCV003942271 RCV003982028 RCV003969227 RCV003964270 RCV003903161 RCV003970801 RCV003926079 RCV003925914 RCV003970824 RCV003926152 RCV003928502 RCV003916148 RCV003916158 RCV003916159 RCV003953347 RCV003930836 RCV003910555 RCV003920571 RCV003930834 RCV003930708 RCV003940724 RCV003922874 RCV003923109 RCV003940779 RCV003958116 |
| Cervical cancer |
Benign |
rs61754203 |
RCV005938869 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs61754203 |
RCV005938878 |
| Familial pancreatic carcinoma |
Benign |
rs61754203 |
RCV005938871 |
| Gastric cancer |
Benign |
rs61754203 |
RCV005938873 |
| Hepatocellular carcinoma |
Likely benign |
rs200634472 |
RCV005939078 |
| Hereditary breast ovarian cancer syndrome |
Uncertain significance |
rs546321608 |
RCV001374486 |
| Lung cancer |
Benign |
rs61754203 |
RCV005938877 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs35682129 |
RCV005937203 |
| Malignant tumor of esophagus |
Likely benign; Benign |
rs147408011, rs61754203 |
RCV005933239 RCV005938867 |
| Malignant tumor of urinary bladder |
Likely benign |
rs61754132 |
RCV005929593 |
| Melanoma |
Likely benign |
rs147408011 |
RCV005933240 |
| Nonpapillary renal cell carcinoma |
Benign |
rs61754203, rs35682129 |
RCV005938868 RCV005937202 |
| Ovarian cancer |
Benign |
rs61754203 |
RCV005938870 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs61754203 |
RCV005938874 |
| Sarcoma |
Benign |
rs61754203 |
RCV005938872 |
| Thymoma |
Benign |
rs61754203 |
RCV005938876 |
| Uterine carcinosarcoma |
Benign |
rs61754203 |
RCV005938875 |
|
| Disease Name |
Relationship Type |
References |
| Adenoma |
Associate |
23301059 |
| Aneuploidy |
Associate |
36576405 |
| Atherosclerosis |
Associate |
33317170 |
| Autism Spectrum Disorder |
Associate |
31674007 |
| Breast Neoplasms |
Associate |
19223905, 30987626 |
| Burkitt Lymphoma |
Associate |
19759907 |
| Carcinogenesis |
Associate |
23301059, 24453032 |
| Carcinoma |
Associate |
36576405 |
| Carcinoma Ovarian Epithelial |
Associate |
24453032 |
| Carotid Stenosis |
Associate |
33317170 |
| Colorectal Neoplasms |
Associate |
21788403, 25933218, 29575536 |
| Esophageal Squamous Cell Carcinoma |
Associate |
27432467 |
| Exfoliation Syndrome |
Associate |
25118708 |
| Glaucoma Open Angle |
Stimulate |
21655191 |
| Glioblastoma |
Associate |
27388765 |
| Inflammation |
Associate |
35964136 |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
21091633 |
| Leukemia Myeloid Acute |
Associate |
29764561, 30982490 |
| Lymphoma Mantle Cell |
Associate |
32961552 |
| Melanoma |
Associate |
22553342 |
| Mitochondrial Diseases |
Associate |
22553342 |
| Neoplasm Metastasis |
Associate |
27432467 |
| Neoplasms |
Associate |
19223905, 19759907, 21788403, 22788920, 24453032, 29575536, 36576405 |
| Neoplasms |
Stimulate |
27432467 |
| Neuroblastoma |
Associate |
22788920 |
| Neurodegenerative Diseases |
Associate |
31692446 |
| Obstetric Labor Premature |
Associate |
36768802 |
| Ovarian Neoplasms |
Associate |
29123378, 31091257 |
| Paget's Disease Mammary |
Associate |
30905357 |
| Pancreatic Neoplasms |
Stimulate |
17912030 |
| Parathyroid Neoplasms |
Associate |
22198862 |
| Prostate Cancer Hereditary 6 |
Stimulate |
23409057 |
| Prostatic Neoplasms |
Associate |
23409057, 29429983 |
| Prostatic Neoplasms Castration Resistant |
Stimulate |
23409057 |
| Stomach Neoplasms |
Associate |
38438090 |
| Stroke |
Associate |
33317170 |
| Tertiary Lymphoid Structures |
Associate |
27432467 |
|