| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autism spectrum disorder |
Likely benign |
rs2531611184 |
RCV003127283 |
| Bladder exstrophy-epispadias-cloacal extrophy complex |
Benign; Conflicting classifications of pathogenicity |
rs144164666, rs139837673, rs201004738 |
RCV004556103 RCV004556106 RCV004556071 |
| CELSR3-related disorder |
Uncertain significance; Benign; Likely benign |
rs2047180596, rs2531621538, rs140688880, rs146659525, rs193020039, rs369652176, rs1413749576, rs147947825, rs763316177, rs769423919, rs76423828, rs200877975, rs138985126, rs534018514, rs144164666, rs2531583021, rs572098699, rs138606642, rs138326407, rs200128579, rs144222226, rs1422853760, rs142198045, rs200275511, rs868152619, rs1264195, rs773293357, rs1469773303, rs745321300, rs762689560, rs150960747, rs139167095, rs61729242 View all (18 more) |
RCV003412425 RCV003391476 RCV003966402 RCV003981499 RCV003902220 RCV003981438 RCV003899870 RCV003911802 RCV003967326 RCV003897379 RCV003914112 RCV003947365 RCV003919417 RCV003941449 RCV003941584 RCV003939673 RCV003934364 RCV003959167 RCV003956952 RCV003969287 RCV003907380 RCV003949167 RCV003949221 RCV003956813 RCV003954607 RCV003979000 RCV003979057 RCV003976917 RCV003964765 RCV003961989 RCV003966765 RCV003972151 RCV003925916 |
| Clear cell carcinoma of kidney |
Benign |
rs114401810 |
RCV005903311 |
| Gastric cancer |
Benign |
rs139167095 |
RCV005933598 |
| Hypertrophic cardiomyopathy |
Benign |
rs201004738 |
RCV001199397 |
| Lymphoma |
Benign |
rs139167095 |
RCV005933599 |
| Malignant tumor of esophagus |
Benign |
rs139167095 |
RCV005933597 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs139167095 |
RCV005933600 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs144164666 |
RCV005939016 |
| Tourette syndrome |
Benign; Likely risk allele; Uncertain significance |
rs3821875, rs138657991, rs780740673, rs2531602824 |
RCV001849533 RCV001849623 RCV001849625 RCV003223514 |
| Uterine carcinosarcoma |
Benign |
rs114401810 |
RCV005903312 |
| Uterine corpus endometrial carcinoma |
Benign |
rs114401810 |
RCV005903313 |
| Variant of unknown significance |
Benign |
rs149614835 |
RCV000033236 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
34872584 |
| Adenocarcinoma of Lung |
Associate |
33811453 |
| Brain Diseases |
Associate |
24358150 |
| Carcinogenesis |
Associate |
26838213, 30696738, 33811453 |
| Colorectal Neoplasms |
Associate |
30231850 |
| Epilepsy |
Associate |
34951123 |
| Leukemia Myeloid Acute |
Associate |
27258612 |
| Neoplasm Metastasis |
Associate |
33811453 |
| Neoplasms |
Associate |
20416094, 33811453, 34872584, 37546702, 38507078 |
| Prostatic Neoplasms |
Associate |
37546702 |
| Seizures Febrile |
Associate |
34951123 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
25374236, 26838213, 34406843, 38507078 |
| Tourette Syndrome |
Associate |
28472652, 30257206 |
| Uterine Cervicitis |
Associate |
30696738 |
|