| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cervical cancer |
Likely benign; Benign |
rs61750436, rs3087352 |
RCV005933409 RCV005913141 |
| Clear cell carcinoma of kidney |
Benign |
rs141448886 |
RCV005936787 |
| Colon adenocarcinoma |
Likely benign |
rs61750436 |
RCV005933407 |
| Familial cancer of breast |
Likely benign |
rs61750436 |
RCV005933406 |
| Gastric cancer |
Benign; Likely benign |
rs141448886, rs61750436, rs3087352 |
RCV005936789 RCV005933410 RCV005913142 |
| LACTASE PERSISTENCE |
Uncertain significance; association; Benign; Likely benign |
rs41456145, rs4988235, rs182549, rs145946881, rs41380347, rs41525747, rs55660827 |
RCV002282970 RCV000008124 RCV000008125 RCV000008126 RCV000008127 RCV000008128 RCV001822870 |
| Lung cancer |
Benign; Likely benign |
rs141448886, rs61750436 |
RCV005936793 RCV005933414 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs141448886 |
RCV005936788 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs141448886, rs61750436 |
RCV005936786 RCV005933408 |
| MCM6-related disorder |
Likely benign; Benign |
rs144082863, rs141448886, rs140626674, rs61752701, rs1558754166, rs2289049, rs1381934296, rs746417693, rs61750436, rs201215953, rs3087353, rs188565779, rs201537325 |
RCV003896613 RCV003909336 RCV003907336 RCV003911728 RCV003967255 RCV003984518 RCV003909864 RCV003924754 RCV003954725 RCV003932137 RCV003982004 RCV003969199 RCV003975560 |
| Melanoma |
Benign |
rs141448886 |
RCV005936792 |
| Neurodevelopmental disorder |
Uncertain significance |
rs2467301834 |
RCV004586494 |
| Nonpersistence of intestinal lactase |
Uncertain significance |
rs191517067, rs756704164, rs945901290, rs776037433, rs138808270 |
RCV003131564 RCV003131565 RCV003132613 RCV000714734 RCV000714680 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs141448886, rs61750436 |
RCV005936790 RCV005933411 |
| Thymoma |
Likely benign |
rs61750436 |
RCV005933412 |
| Thyroid cancer, nonmedullary, 1 |
Benign; Likely benign |
rs141448886, rs61750436 |
RCV005936791 RCV005933413 |
| Uterine corpus endometrial carcinoma |
Benign |
rs3087352 |
RCV005913143 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
31323040, 32121037, 36906970 |
| Autism Spectrum Disorder |
Associate |
37198333 |
| Bloom Syndrome |
Associate |
34370039 |
| Bone Diseases Metabolic |
Associate |
39275317 |
| Breast Neoplasms |
Associate |
31476594, 31758680, 32830194, 35125121 |
| Breast Neoplasms |
Stimulate |
37664925 |
| Carcinogenesis |
Associate |
20648010, 37664925, 39766782 |
| Carcinoma Basal Cell |
Stimulate |
32830194 |
| Carcinoma Hepatocellular |
Associate |
29357919, 32082966, 32964028 |
| Carcinoma Hepatocellular |
Stimulate |
32403044, 35720029 |
| Carcinoma Non Small Cell Lung |
Associate |
25045014 |
| Carcinoma Renal Cell |
Associate |
33402477 |
| Carcinoma Squamous Cell |
Stimulate |
36445337 |
| Colorectal Neoplasms |
Associate |
30937307, 35496037 |
| COVID 19 |
Associate |
37278873 |
| Developmental Disabilities |
Associate |
37198333 |
| Diabetes Mellitus |
Associate |
33577048 |
| Diabetes Mellitus Type 2 |
Associate |
33577048, 39275317 |
| Endocrine System Diseases |
Associate |
37198333 |
| Epilepsy |
Associate |
37198333 |
| Esophageal Squamous Cell Carcinoma |
Associate |
32583000 |
| Growth Disorders |
Associate |
37198333 |
| Hepatitis B |
Associate |
31476594, 35125121 |
| Hodgkin Disease |
Associate |
29202546 |
| Hyperglycemia |
Associate |
33577048 |
| Hypoxia |
Associate |
20103649 |
| Irritable Bowel Syndrome |
Associate |
29912753 |
| Lactase Deficiency Congenital |
Associate |
20015952, 23029545, 29063188, 30689919, 37354976 |
| Lactose Intolerance |
Associate |
20225268, 29912753, 32659776, 39275317, 39425916 |
| Lung Neoplasms |
Associate |
25045014, 35360518 |
| Lymphatic Metastasis |
Stimulate |
37664925 |
| Lymphoma |
Associate |
16189522 |
| Lymphoma Mantle Cell |
Associate |
16189522 |
| Meningioma |
Stimulate |
19877719 |
| Microcephaly |
Associate |
37198333 |
| Neoplasm Metastasis |
Associate |
29357919, 33402477, 33668040 |
| Neoplasms |
Associate |
22425911, 23874974, 25046975, 29202546, 30150654, 32403044, 32830194, 32964028, 32989049, 33318029, 33402477, 36509991, 37664925, 40007132 |
| Neoplasms |
Stimulate |
29357919, 32121037, 32583000, 35720029 |
| Neural Tube Defects |
Associate |
30689919 |
| Neuroblastoma |
Associate |
24348903 |
| Obesity |
Associate |
21193851, 33577048 |
| Oligodendroglioma |
Associate |
31561286 |
| Osteoporosis |
Associate |
39275317 |
| Osteoporotic Fractures |
Associate |
39275317 |
| Pancreatic Neoplasms |
Associate |
27695057 |
| Retinal Dysplasia |
Associate |
18414413 |
| Retinoblastoma |
Associate |
33217867 |
| Silicosis |
Associate |
37278873 |
| Small Cell Lung Carcinoma |
Associate |
25045014 |
| Thyroid Neoplasms |
Associate |
37864896 |
| Triple Negative Breast Neoplasms |
Associate |
31476594, 33668040, 38639528 |
| Urinary Bladder Neoplasms |
Associate |
18414413 |
| Urogenital Abnormalities |
Associate |
37198333 |
| Uterine Cervical Dysplasia |
Associate |
30150654 |
| Uterine Cervical Neoplasms |
Associate |
23874974, 30150654 |
|