| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Abnormality of neuronal migration |
Benign |
rs201555818, rs769958179 |
RCV000201417 RCV000201356 |
| Acute myeloid leukemia |
Benign |
rs56269749 |
RCV005906368 |
| Cervical cancer |
Benign |
rs56269749 |
RCV005906369 |
| Cholangiocarcinoma |
Benign |
rs140367558 |
RCV005871397 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs140367558 |
RCV005871398 |
| Clear cell carcinoma of kidney |
Benign |
rs56269749 |
RCV005906371 |
| Colon adenocarcinoma |
Benign |
rs56269749 |
RCV005906367 |
| Familial pancreatic carcinoma |
Benign |
rs56269749 |
RCV005906372 |
| Gastric cancer |
Benign |
rs56269749 |
RCV005906374 |
| Lung cancer |
Benign |
rs56269749 |
RCV005906378 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs56269749 |
RCV005906373 |
| Meniere disease |
Conflicting classifications of pathogenicity; Uncertain significance |
rs371803409, rs763479058, rs201100629, rs766547348, rs2466237027 |
RCV004573422 RCV004573510 RCV004573511 RCV004573512 RCV004573513 |
| Ovarian cancer |
Benign |
rs56269749 |
RCV005906370 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs56269749 |
RCV005906375 |
| THADA-related disorder |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs544375407, rs61754254, rs190709877, rs57257569, rs201687277, rs34600960, rs750254692, rs374109478, rs149038509, rs377020386, rs199694887, rs33979934, rs35419456, rs10210191, rs145031803, rs147386872, rs371803409, rs200282553, rs17030648, rs140367558, rs61756227, rs200743409, rs181440554, rs201128133, rs75542920, rs139798101, rs752113084, rs35422033, rs112504846, rs746973767, rs150490089, rs114015985, rs200109940, rs6712958, rs111983293, rs17031074, rs113096905, rs377552891, rs17334247, rs56269749, rs374213349 View all (26 more) |
RCV003929110 RCV003919157 RCV003894748 RCV003907116 RCV003907124 RCV003907223 RCV003907231 RCV003909397 RCV003917303 RCV003981480 RCV003981607 RCV003974630 RCV003964501 RCV003911764 RCV003912211 RCV003911547 RCV003909543 RCV003939823 RCV003917126 RCV003941446 RCV003939488 RCV003944478 RCV003961371 RCV003961481 RCV003914332 RCV003939407 RCV003971419 RCV003932249 RCV003934141 RCV003924706 RCV003936869 RCV003936911 RCV003944307 RCV003979166 RCV003979210 RCV003979284 RCV003976730 RCV003969231 RCV003913277 RCV003925923 RCV003913107 |
| Thymoma |
Benign |
rs56269749 |
RCV005906376 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs56269749 |
RCV005906377 |
| Uterine corpus endometrial carcinoma |
Benign |
rs56269749 |
RCV005906379 |
|
| Disease Name |
Relationship Type |
References |
| Abortion Habitual |
Associate |
30844144 |
| Breast Neoplasms |
Associate |
22237986 |
| Colorectal Neoplasms |
Stimulate |
21602532 |
| Colorectal Neoplasms |
Associate |
21602532 |
| Diabetes Gestational |
Associate |
36672824 |
| Diabetes Mellitus |
Associate |
19833888, 21296741, 21602532, 23851660, 27554474 |
| Diabetes Mellitus Type 2 |
Associate |
18567820, 18714373, 19833888, 19862325, 21296741, 21602532, 22389004, 23028138, 24929251, 26290879, 27554474, 30728419 |
| Hyperandrogenism |
Associate |
33779462 |
| Insulin Resistance |
Associate |
32425888 |
| Metabolic Syndrome |
Associate |
32425888 |
| Neoplasms |
Associate |
25209362, 26773531 |
| Obesity |
Associate |
18567820, 25060389 |
| Overweight |
Associate |
23349771 |
| Polycystic Ovary Syndrome |
Associate |
22180642, 22389004, 22547425, 25303487, 25904635, 25978310, 26416764, 28068351, 30844144, 32425888, 37223019 |
| Prostatic Neoplasms |
Associate |
26537068, 26773531, 33115829 |
| Thyroid Neoplasms |
Associate |
36672824 |
| Weight Gain |
Associate |
20816152 |
|