|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cervical cancer |
Benign; Likely benign |
rs146366402, rs117007108 |
RCV005913442 RCV005904468 |
| Colon adenocarcinoma |
Benign; Likely benign |
rs146366402 |
RCV005913441 |
| Familial cancer of breast |
Benign |
rs117007108 |
RCV005904465 |
| Gastric cancer |
Benign |
rs112948395 |
RCV005933215 |
| Hepatocellular carcinoma |
Benign |
rs117007108 |
RCV005904466 |
| JAG2-related disorder |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs774914201, rs202178182, rs2542878179, rs200439518, rs142729116, rs770756112, rs768876569, rs202039687, rs181385226, rs771494301, rs3122382, rs376316136, rs373302058, rs78154277, rs368232652, rs146037139, rs113186535, rs370167699, rs755513842, rs771491190, rs112948395, rs776534959, rs138843853, rs1338827213, rs200966804, rs148440032, rs138779386, rs747717548, rs138120492, rs374092502, rs144977985, rs767092332, rs764784118, rs749297498, rs201557978, rs775456413, rs771756193, rs769099523, rs375550242, rs145041298, rs138823032, rs148885540, rs370664484, rs1046329512, rs587595148, rs147352437, rs113906438, rs372567398, rs35304114, rs74913644, rs146366402, rs114828659, rs61730146, rs117007108, rs141925862, rs35006456, rs61750261, rs78862296, rs199682063, rs587669888 View all (45 more) |
RCV003391379 RCV003414584 RCV003400095 RCV003906751 RCV003929053 RCV003896653 RCV003894548 RCV003921508 RCV003924078 RCV003894180 RCV003906869 RCV003904510 RCV003974288 RCV003979871 RCV003901735 RCV003903961 RCV003917002 RCV003911604 RCV003909586 RCV003933977 RCV003941957 RCV003944077 RCV003961683 RCV003961707 RCV003959559 RCV003931581 RCV003927166 RCV003939441 RCV003914324 RCV003947091 RCV003949409 RCV003949472 RCV003944394 RCV003957045 RCV003926812 RCV003932097 RCV003934087 RCV003934159 RCV003957375 RCV003957376 RCV003959405 RCV003959464 RCV003971667 RCV003971765 RCV003967096 RCV003964236 RCV003976411 RCV003935854 RCV003978360 RCV003905994 RCV003936039 RCV003918404 RCV003928577 RCV003930644 RCV003930681 RCV003968042 RCV003930794 RCV003920667 RCV003975718 RCV003923248 |
| Lung cancer |
Benign |
rs112948395 |
RCV005933216 |
| Malignant tumor of esophagus |
Likely benign; Benign |
rs376316136, rs112948395, rs117007108 |
RCV005936896 RCV005933214 RCV005904467 |
| Mendelian syndromes with cleft lip/palate |
Uncertain significance |
rs1888180630 |
RCV003315098 |
| Orofacial cleft 1 |
Conflicting classifications of pathogenicity |
rs78154277 |
RCV005871474 |
| Sarcoma |
Benign; Likely benign |
rs146366402 |
RCV005913443 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs146366402 |
RCV005913444 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
16136053, 27196489 |
| Adenocarcinoma of Lung |
Associate |
27196489 |
| Anxiety |
Associate |
29225348 |
| Arthritis Rheumatoid |
Associate |
37796367 |
| Breast Neoplasms |
Stimulate |
20030805 |
| Breast Neoplasms |
Associate |
21499308, 21990379 |
| Calcinosis Cutis |
Stimulate |
25576913 |
| Carcinogenesis |
Associate |
32250571 |
| Carcinoma |
Associate |
24708907 |
| Carcinoma Pancreatic Ductal |
Stimulate |
21922151 |
| Chromosome 1q21.1 Deletion Syndrome 1.35 Mb |
Associate |
24708907 |
| Cleft Lip |
Associate |
16327884 |
| Cleft Palate |
Associate |
16327884 |
| Colorectal Neoplasms |
Associate |
26744411 |
| Endocrine System Diseases |
Associate |
37796700 |
| Glioblastoma |
Associate |
21129727, 21649900 |
| Histiocytosis Langerhans Cell |
Associate |
23074278 |
| Huntington Disease |
Associate |
25480889 |
| Hypoxia |
Stimulate |
21499308, 25166211 |
| Hypoxia Brain |
Stimulate |
21499308 |
| Inflammation |
Associate |
19398556 |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
18796623 |
| Medulloblastoma |
Associate |
24708907, 25576913 |
| Monoclonal Gammopathy of Undetermined Significance |
Stimulate |
15292061 |
| Multiple Myeloma |
Associate |
15292061, 15920166, 37834003 |
| Neoplasm Metastasis |
Associate |
21499308, 23211831 |
| Neoplasm Metastasis |
Stimulate |
24228105 |
| Neoplasms |
Stimulate |
20030805 |
| Neoplasms |
Associate |
21499308, 21922151, 21990379, 23211831, 24228105, 30280784, 32250571, 37834003 |
| Neurodegenerative Diseases |
Associate |
25480889 |
| Osteosarcoma |
Associate |
33926256 |
| Ovarian Neoplasms |
Associate |
20624166, 37796700 |
| Pancreatic Neoplasms |
Associate |
19258443 |
| Prostatic Intraepithelial Neoplasia |
Associate |
26341090 |
| Prostatic Neoplasms Castration Resistant |
Associate |
27068475 |
| Retinoblastoma |
Associate |
27661116 |
| Skin Neoplasms |
Stimulate |
25565632 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
24351288, 32250571 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate |
27349552 |
| Stomach Neoplasms |
Associate |
36071128 |
| Testicular Germ Cell Tumor |
Associate |
15361705 |
| Triple Negative Breast Neoplasms |
Associate |
30280784 |
| Urinary Bladder Neoplasms |
Associate |
24228105 |
| Uveal melanoma |
Associate |
23211831 |
|