| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs80030970 |
RCV005900570 |
| Congenital aniridia |
Conflicting classifications of pathogenicity |
rs150310830 |
RCV005419889 |
| Congenital hypothyroidism |
Uncertain significance |
rs752946704 |
RCV006444046 |
| Diabetes mellitus |
Benign |
rs148199056, rs6415788 |
RCV002226664 RCV002226665 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs676935 |
RCV005921477 |
| Monogenic diabetes |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs76094493, rs35154632, rs148199056, rs143056249, rs76342955, rs143051164, rs148572278, rs1057524895, rs145867412, rs755318788, rs80161424, rs138497710, rs146131512, rs761151597, rs148168366, rs149840771, rs200694226, rs977500969, rs376031632, rs200959196, rs143192828, rs148816140, rs1407324725, rs377094207, rs375931960, rs199788224, rs375834888, rs773069755, rs201804281 View all (14 more) |
RCV000445419 RCV000664126 RCV001174470 RCV001174472 RCV000445363 RCV000445503 RCV000664125 RCV000445541 RCV000445462 RCV000445531 RCV000445415 RCV000445483 RCV000445431 RCV000445380 RCV000445451 RCV001174468 RCV000664121 RCV000664122 RCV000664123 RCV000664124 RCV001174473 RCV001174469 RCV001174443 RCV001174471 RCV001174474 RCV001174475 RCV001174476 RCV001174477 RCV001174478 |
| Sarcoma |
Benign |
rs664334 |
RCV005921465 |
| Transitory neonatal diabetes mellitus |
Benign; Likely benign; Conflicting classifications of pathogenicity |
rs74680081, rs529418802, rs117802495, rs75462592, rs75564360, rs141985853, rs377419083, rs76342955, rs80161424, rs146131512, rs374943049 |
RCV002465959 RCV002465960 RCV002465605 RCV002465643 RCV002465645 RCV002465641 RCV002465642 RCV002465644 RCV002465652 RCV002465653 RCV002465809 |
| Uterine corpus endometrial carcinoma |
Benign |
rs1331260 |
RCV005900571 |
|
| Disease Name |
Relationship Type |
References |
| Adenoma |
Associate |
30648929, 31273314 |
| Anemia |
Associate |
33935973 |
| Anorchia |
Associate |
28253873 |
| Body Dysmorphic Disorders |
Associate |
28253873 |
| Bone Diseases Metabolic |
Associate |
28253873 |
| Chemical and Drug Induced Liver Injury |
Associate |
26259131 |
| Choanal Atresia |
Associate |
26259131, 28253873 |
| Cholestasis |
Associate |
33935973 |
| Cone Rod Dystrophies |
Associate |
16909397 |
| Congenital Hypothyroidism |
Associate |
27148679, 28253873, 33935973, 34093443, 34200080 |
| Craniosynostoses |
Associate |
26259131, 28253873 |
| Cryptorchidism |
Associate |
28253873 |
| Cysts |
Associate |
26259131 |
| Developmental Disabilities |
Associate |
34093443 |
| Diabetes Gestational |
Associate |
29947923, 36313769 |
| Diabetes Mellitus |
Associate |
22662265, 26839896, 28253873, 28520980, 29246973, 29436472, 31415576, 33376132, 34093443, 35246208, 37897565 |
| Diabetes Mellitus Neonatal with Congenital Hypothyroidism |
Associate |
33935973 |
| Diabetes Mellitus Transient Neonatal 1 |
Associate |
26259131, 27148679, 28253873, 33935973, 37897565 |
| Diabetes Mellitus Type 1 |
Associate |
19430480, 26053495, 28520980, 31455420, 31558544 |
| Diabetes Mellitus Type 2 |
Associate |
21103350, 21747906, 21949744, 22662265, 22961080, 24086726, 24953961, 26053495, 29606121, 31123324, 31145772, 31415576, 33830302, 35246208 |
| Ear Diseases |
Associate |
27148679 |
| Exocrine Pancreatic Insufficiency |
Associate |
26259131, 28253873, 33935973 |
| Facial Dysmorphism with Multiple Malformations |
Associate |
27148679, 28253873 |
| Fibrosis |
Associate |
26259131 |
| Glaucoma |
Associate |
27148679 |
| Glaucoma 3 Primary Congenital A |
Associate |
28253873, 34093443 |
| Glaucoma Angle Closure |
Associate |
30399154 |
| Glioblastoma |
Associate |
36114444 |
| Glioma |
Associate |
20838435 |
| Hearing Loss Sensorineural |
Associate |
26259131, 28253873 |
| Heart Septal Defects Atrial |
Associate |
26259131 |
| Hernia Hiatal |
Associate |
26259131 |
| Hypoglycemia |
Associate |
21747906 |
| Hypomagnesemia 5 Renal with Ocular Involvement |
Associate |
27148679 |
| Hypospadias |
Associate |
28253873 |
| Hypothyroidism Congenital Nongoitrous 1 |
Associate |
33935973 |
| Islet cell tumor syndrome |
Associate |
31123324 |
| Kidney Diseases |
Associate |
26259131, 27148679 |
| Kidney Diseases Cystic |
Associate |
34093443 |
| Liver Cirrhosis |
Associate |
28253873 |
| Liver Diseases |
Associate |
28253873 |
| Liver Failure |
Associate |
26259131 |
| Mason Type Diabetes |
Associate |
29606121 |
| Megalocornea |
Associate |
33935973 |
| Metabolic Syndrome |
Associate |
37816730 |
| Myocardial Bridging |
Associate |
27148679 |
| Neoplasms |
Associate |
25122662, 34282807 |
| Neoplasms |
Stimulate |
36724950 |
| Obesity |
Stimulate |
35246208 |
| Osteoarthritis |
Associate |
29436472 |
| Polycystic Kidney Diseases |
Associate |
28253873 |
| Post Acute COVID 19 Syndrome |
Associate |
27148679 |
| Renal dysplasia diffuse cystic |
Associate |
26259131 |
| Skin Manifestations |
Associate |
26259131 |
| Thyroid Diseases |
Associate |
26259131 |
| Thyroid Neoplasms |
Associate |
34282807 |
| Triple Negative Breast Neoplasms |
Associate |
36724950 |
|