| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Anterior segment dysgenesis |
Likely pathogenic; Pathogenic |
rs2465883561, rs72549387, rs587778873, rs72549376 |
RCV002471918 RCV001200036 RCV001200040 RCV001200037 |
| Anterior segment dysgenesis 6 |
Likely pathogenic; Pathogenic |
rs104894979, rs778202993, rs2125316235, rs529769268, rs2125314883, rs56175199, rs72481807, rs777515179, rs768047511, rs72466462, rs72549379, rs765666893, rs72549381, rs72549388, rs72480442, rs148542782, rs2465882994, rs28936700, rs28936701, rs55989760, rs72549389, rs72549387, rs766425037, rs72549380, rs779730090, rs2465884568, rs1573276416, rs1235928280, rs2465883438, rs2465882986, rs587778875, rs985156509, rs1217351630, rs2465879029, rs750447918, rs920199421, rs1682429616, rs2465884959, rs1195158694, rs104893623, rs753591839, rs72480439, rs1267757855, rs2465878545, rs72480437, rs903413018, rs1248291721, rs2465878985, rs2465884590, rs2465882881, rs2465879013, rs2465884101, rs2465883734, rs1558603396, rs749073455, rs377049098, rs771076928, rs56010818, rs587778873, rs751768343, rs944452644, rs72549376 View all (47 more) |
RCV003466995 RCV003469772 RCV001449671 RCV002506646 RCV002501938 RCV003470876 RCV002503262 RCV003470910 RCV003470921 RCV003470925 RCV003470934 RCV003470935 RCV003471045 RCV003471094 RCV003471234 RCV003465998 RCV004572811 RCV001335112 RCV003466833 RCV003466834 RCV000008175 RCV000416316 RCV001449670 RCV001730655 RCV003466062 RCV003466078 RCV003468667 RCV003468668 RCV003468669 RCV003468671 RCV003468672 RCV003468673 RCV003468674 RCV003468675 RCV003468657 RCV003468658 RCV003468660 RCV003468661 RCV003468662 RCV003468663 RCV003468664 RCV003468665 RCV003468666 RCV003470319 RCV004574094 RCV005030107 RCV004573203 RCV004573365 RCV004556156 RCV004575752 RCV004575753 RCV004575754 RCV004575755 RCV004575756 RCV003466871 RCV003470722 RCV003465364 RCV001449669 RCV002272338 RCV003466929 RCV003466930 RCV002505536 RCV003467568 RCV003467754 RCV003469294 |
| Congenital glaucoma |
Likely pathogenic; Pathogenic |
rs778202993, rs757520959, rs56175199, rs72549373, rs777515179, rs72549379, rs765666893, rs72549381, rs72549388, rs72480442, rs148542782, rs2465882994, rs1373671407, rs1450783755, rs28936700, rs28936701, rs55989760, rs72549389, rs72549387, rs104893629, rs766425037, rs72549380, rs779730090, rs1235928280, rs587778875, rs985156509, rs1217351630, rs920199421, rs753591839, rs72480439, rs2465883235, rs2465878487, rs2465878465, rs2465878545, rs1275572421, rs72480437, rs1201057731, rs2465884698, rs2465882990, rs2465878490, rs1682430086, rs903413018, rs1558603396, rs762178467, rs1248291721, rs893198212, rs749073455, rs377049098, rs771076928, rs56010818, rs587778873, rs72549376, rs72481807 View all (38 more) |
RCV001390416 RCV005094805 RCV003594146 RCV003759361 RCV001885179 RCV002034676 RCV003594165 RCV001919131 RCV001953231 RCV001978292 RCV002664231 RCV002651454 RCV002651455 RCV003031051 RCV001206715 RCV002512894 RCV001201386 RCV003593856 RCV000692947 RCV003593857 RCV000689498 RCV000695529 RCV003594648 RCV003594700 RCV003759882 RCV003779173 RCV005100266 RCV003594698 RCV003759881 RCV003594699 RCV003595113 RCV003595047 RCV003594999 RCV003595291 RCV003593949 RCV003595580 RCV003595581 RCV003595582 RCV003594428 RCV003594524 RCV003758202 RCV003758481 RCV003758578 RCV003759280 RCV003760251 RCV003833110 RCV003856507 RCV002231223 RCV002231224 RCV003758894 RCV000631367 RCV003758916 RCV002228168 RCV002228326 RCV001048522 RCV003594097 |
| Congenital ocular coloboma |
Pathogenic |
rs587778875 |
RCV000059339 |
| CYP1B1-related disorder |
Pathogenic |
rs28936700, rs28936701, rs55989760, rs72549387, rs72549380, rs377049098, rs771076928, rs587778873, rs587778875 |
RCV004732534 RCV004732535 RCV004732536 RCV000331073 RCV004535284 RCV004533299 RCV004533300 RCV004537264 RCV000778615 |
| CYP1B1-related glaucoma with or without anterior segment dysgenesis |
Likely pathogenic; Pathogenic |
rs104894979, rs2125316235, rs56175199, rs72481807, rs768047511, rs72466462, rs2125316074, rs1389588817, rs72549379, rs72549381, rs72480442, rs148542782, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549389, rs72549387, rs72549380, rs779730090, rs1195158694, rs771076928, rs56010818, rs587778873, rs587778875, rs751768343, rs944452644, rs72549376 View all (14 more) |
RCV006255149 RCV006255196 RCV006255198 RCV006255200 RCV006255202 RCV006255203 RCV006255204 RCV006255205 RCV006255207 RCV006255209 RCV006255212 RCV006255221 RCV006255119 RCV006255120 RCV006255121 RCV006255122 RCV006255123 RCV006255124 RCV006255125 RCV006255167 RCV006255222 RCV006255224 RCV006255168 RCV006255178 RCV006255181 RCV006255141 RCV006255143 RCV006255187 RCV006255188 RCV006255190 |
| Glaucoma 3, primary infantile, B |
Likely pathogenic; Pathogenic |
rs529769268, rs2125314883, rs72481807, rs28936700, rs72549387, rs766425037, rs771076928, rs751768343 |
RCV002506646 RCV002501938 RCV002503262 RCV005357093 RCV000763084 RCV002503968 RCV002491346 RCV002505536 |
| Glaucoma 3A |
Likely pathogenic; Pathogenic |
rs104894979, rs906925939, rs778202993, rs2125316235, rs529769268, rs2125314883, rs56175199, rs72481807, rs768047511, rs2125316074, rs1389588817, rs72549379, rs72549388, rs72480442, rs770799584, rs148542782, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs766425037, rs72549380, rs779730090, rs747810555, rs985156509, rs72480439, rs72480437, rs780002791, rs2465878985, rs148233007, rs1558603396, rs1064792896, rs771076928, rs56010818, rs1573274915, rs587778873, rs587778875, rs751768343, rs944452644, rs72549376, rs1682415237, rs761216127 View all (32 more) |
RCV000082861 RCV001376149 RCV005023153 RCV001449672 RCV002506646 RCV002501938 RCV005023212 RCV002503262 RCV002246524 RCV001823034 RCV001823589 RCV005023270 RCV005002699 RCV005025600 RCV002251048 RCV004691505 RCV000008169 RCV000008171 RCV000008172 RCV000008173 RCV000008174 RCV000169657 RCV000008179 RCV000008182 RCV000008184 RCV001808721 RCV001250446 RCV005029980 RCV003389594 RCV005030056 RCV006257379 RCV000396035 RCV005030107 RCV004555372 RCV004556156 RCV004556157 RCV000023147 RCV000477808 RCV001250447 RCV003448341 RCV000985048 RCV001250448 RCV002279933 RCV001004165 RCV001004166 RCV005029611 RCV005029734 RCV001250449 RCV001250445 |
| Glaucoma of childhood |
Pathogenic |
rs55989760 |
RCV000791358 |
| Glaucoma, primary open angle, juvenile-onset |
Pathogenic; Likely pathogenic |
rs2125316417, rs104893629 |
RCV000008181 RCV000008183 |
| Irido-corneo-trabecular dysgenesis |
Pathogenic |
rs72549387, rs1064792896, rs587778873 |
RCV000008176 RCV000477808 RCV000059336 |
| Primary congenital glaucoma |
Likely pathogenic; Pathogenic |
rs529769268, rs757520959, rs777515179, rs2125316074, rs72549379, rs765666893, rs72549381, rs72480442, rs148542782, rs2465882994, rs28936700, rs28936701, rs55989760, rs72549389, rs104893628, rs104893629, rs72549380, rs779730090, rs2465884568, rs920199421, rs72480439, rs148233007, rs147535955, rs377049098, rs771076928, rs56010818, rs72481807 View all (12 more) |
RCV001526885 RCV002509687 RCV004801049 RCV003331212 RCV001825056 RCV001825057 RCV003479366 RCV005433112 RCV003404131 RCV003331444 RCV004700202 RCV003155021 RCV001375550 RCV003155022 RCV005237360 RCV003230351 RCV004767211 RCV003324296 RCV003404746 RCV004801355 RCV005062973 RCV002230703 RCV004701912 RCV004587840 RCV005431817 RCV004782478 RCV003987680 RCV001174931 |
|
| Disease Name |
Relationship Type |
References |
| Abortion Spontaneous |
Associate |
16978616 |
| Achalasia Addisonianism Alacrimia syndrome |
Associate |
36077068 |
| Adenocarcinoma |
Associate |
19935673 |
| Adenocarcinoma of Lung |
Associate |
34338158 |
| Allanson Pantzar McLeod syndrome |
Associate |
17471339 |
| Anterior segment mesenchymal dysgenesis |
Associate |
24024747, 27777502, 32224865, 37788597 |
| Arthritis |
Associate |
30299251 |
| Arthritis Juvenile |
Associate |
31616008 |
| Arthritis Psoriatic |
Associate |
435889 |
| Arthritis Rheumatoid |
Inhibit |
26838552 |
| Asthma |
Associate |
36012391 |
| Autistic Disorder |
Associate |
27777502, 32499604 |
| Axenfeld Rieger syndrome |
Associate |
16735994, 23922489 |
| Barrett Esophagus |
Associate |
10933049 |
| Blindness |
Associate |
25329831 |
| Blood Coagulation Disorders |
Associate |
35003394 |
| Bone Diseases Metabolic |
Associate |
21092186 |
| Brain Neoplasms |
Associate |
30321868 |
| Breast Diseases |
Associate |
16808847 |
| Breast Neoplasms |
Associate |
10702233, 15237001, 16808847, 17683074, 18212750, 18214058, 18425393, 18628428, 18842620, 19214745, 19293312, 19308726, 19376845, 20037207, 21956102, 22418777, 24528081, 24629213, 26134484, 26458823, 28985473, 29445914, 30461653, 31493422, 31775380, 34886806, 36077068, 37038992, 37661069, 7589551 View all (15 more) |
| Breast Neoplasms |
Stimulate |
27956118 |
| Breast Neoplasms |
Inhibit |
37640964 |
| Cap Myopathy |
Associate |
14562027 |
| Carcinogenesis |
Associate |
19604582, 22114726, 24358191, 25027399, 26626260, 6511802 |
| Carcinoma Endometrioid |
Associate |
29060924 |
| Carcinoma Hepatocellular |
Associate |
23087145 |
| Carcinoma Non Small Cell Lung |
Associate |
19331196 |
| Carcinoma Renal Cell |
Associate |
15280921, 25027399, 25860934, 26626260 |
| Carcinoma Renal Cell |
Stimulate |
38183155 |
| Cardiomegaly |
Associate |
32533462 |
| Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
Associate |
18977467 |
| Chromosome Disorders |
Associate |
30089822 |
| Cirrhosis Familial |
Associate |
33978213 |
| Cleft Palate |
Associate |
40435780 |
| Coloboma |
Associate |
24281366 |
| Colorectal Neoplasms |
Associate |
17603900, 17615053, 18990750, 20701755, 27111221, 33906313, 36827833, 37059712 |
| Corneal Opacity |
Associate |
37788597 |
| Death |
Associate |
28377924 |
| Dermatitis Contact |
Associate |
10651994 |
| Diarrhea 5 With Tufting Enteropathy Congenital |
Inhibit |
22114726 |
| DiGeorge Syndrome |
Associate |
24024747 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
8790407 |
| Dyslipidemias |
Associate |
33632238 |
| Early Onset Glaucoma |
Associate |
23922489 |
| Emphysema |
Associate |
25517428 |
| End Stage Liver Disease |
Associate |
23087145 |
| Endometrial Neoplasms |
Associate |
24957043 |
| Esophageal Neoplasms |
Stimulate |
30758105 |
| Esophageal Squamous Cell Carcinoma |
Associate |
23358850 |
| Essential Hypertension |
Associate |
27977510 |
| Eye Abnormalities |
Associate |
15912477, 27777502 |
| Eye Diseases |
Associate |
24281366 |
| Fibrosis |
Associate |
30850646, 37721356 |
| Gallbladder Neoplasms |
Associate |
24535777 |
| Gastrointestinal Neoplasms |
Associate |
38554324 |
| Gastrointestinal Stromal Tumors |
Associate |
23637977 |
| Glaucoma |
Associate |
10851252, 11774072, 15342693, 15682044, 16288197, 16862072, 17563717, 18483560, 19668597, 20057908, 22876119, 23028769, 25018621, 27243976, 27272408, 27777502, 30657791, 32832252, 33892047, 34528698, 35144644, 38241218 View all (7 more) |
| Glaucoma 1 Open Angle A |
Associate |
16688110, 19096718, 22878448, 23922489, 29540704 |
| Glaucoma 3 Primary Congenital A |
Associate |
10227395, 10851252, 11774072, 12598442, 15342693, 15475877, 15723004, 16688110, 16735994, 16963504, 17471339, 17591938, 18483560, 18989382, 19096718, 19234632, 19247456, 19361779, 19536304, 19597567, 19643970, 19898634, 20057908, 20664688, 21081970, 21139974, 21850185, 22128238, 22219654, 23028769, 23218701, 23401651, 23922489, 24024747, 25018621, 25261878, 25329831, 25646030, 25978063, 27060699, 27243976, 27272408, 27777502, 28448622, 28620713, 29453128, 29703882, 30520782, 30820150, 31251480, 31367175, 32153331, 32832252, 35094026, 36083974, 36241656, 36518267, 36833236, 39337513, 9463332, 9497261 View all (46 more) |
| Glaucoma Angle Closure |
Associate |
23422825 |
| Glaucoma Open Angle |
Associate |
11774072, 15342693, 15723004, 16319821, 16688110, 16862072, 17563717, 18385784, 18483560, 19096718, 19643970, 20664688, 21139974, 22876119, 22878448, 23028769, 23922489, 25414181, 25950505, 27243976, 27777502, 29540704, 38241218 View all (8 more) |
| Glioblastoma |
Associate |
35003394 |
| Goniodysgenesis Mental Retardation Short Stature Syndrome |
Associate |
28448622 |
| Head and Neck Neoplasms |
Associate |
21205741 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
26981862 |
| HIV Infections |
Associate |
30665939 |
| Hyperandrogenism |
Associate |
36368943 |
| Hypertension Pulmonary |
Associate |
26647441 |
| Hypertrophy |
Associate |
32533462 |
| Hypospadias |
Associate |
29080015 |
| Hypoxia |
Inhibit |
20228066 |
| Infections |
Associate |
23794133 |
| Inflammation |
Associate |
26134484, 29232759, 31515600 |
| Intraocular Lymphoma |
Associate |
37788597 |
| Iridocorneal Endothelial Syndrome |
Associate |
37788597 |
| Kidney Diseases |
Associate |
25027399 |
| Kidney Neoplasms |
Associate |
25027399 |
| Laryngeal Neoplasms |
Stimulate |
25299224, 6511802 |
| Laryngeal Neoplasms |
Associate |
25299224, 25619313 |
| Leukemia |
Associate |
17496311, 36193313 |
| Leukemia Myeloid Acute |
Associate |
25992585 |
| Liver Diseases |
Associate |
23087145 |
| Liver Neoplasms |
Associate |
23087145 |
| Lung Neoplasms |
Associate |
19174490, 2232364, 24657910, 33283556, 36128170, 36193313 |
| Lung Neoplasms |
Stimulate |
6511802 |
| Lymphatic Metastasis |
Stimulate |
33692504 |
| Meningeal Neoplasms |
Stimulate |
26580399 |
| Meningioma |
Inhibit |
16598069 |
| Meningioma |
Associate |
16598069 |
| Metabolic Diseases |
Associate |
40528211 |
| Microcoria congenital |
Associate |
16288197 |
| Microphthalmos |
Associate |
24281366, 27777502 |
| Mouth Neoplasms |
Associate |
32887903, 6511802 |
| Multiple Myeloma |
Associate |
19736056 |
| Neoplasm Metastasis |
Associate |
26981862 |
| Neoplasms |
Associate |
11461084, 15280921, 17548691, 18212750, 18214058, 18266391, 18454852, 21400024, 21990318, 23794133, 24358191, 24699256, 24819355, 24957043, 25027399, 25329831, 26626260, 26981862, 28139960, 28377924, 29060924, 30133114, 31493422, 32780768, 33906328, 35003394, 35292057, 36077068, 37059712, 37661069, 6511802, 7589551 View all (17 more) |
| Neoplasms |
Inhibit |
22114726 |
| Neoplasms Glandular and Epithelial |
Associate |
32147640 |
| Neuroma Acoustic |
Associate |
17471339 |
| Ocular Hypertension |
Associate |
16862072 |
| Optic Nerve Diseases |
Associate |
16319821 |
| Osteoporosis |
Associate |
18977467 |
| Ovarian Neoplasms |
Associate |
11461084, 24961659, 31493422, 39395328 |
| Pancreatic Neoplasms |
Inhibit |
22301281 |
| Periodic fever familial autosomal dominant |
Associate |
31568004 |
| Personality Disorders |
Associate |
27513235 |
| Peters anomaly |
Associate |
15682044, 16735991, 24024747, 27777502, 35170016, 37788597 |
| Phimosis |
Associate |
29080015 |
| Pituitary Neoplasms |
Associate |
30321868 |
| Polycystic Ovary Syndrome |
Associate |
26975253 |
| Precancerous Conditions |
Associate |
19376845, 20701755, 26580399 |
| Precancerous Conditions |
Stimulate |
24358191 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
23757320, 25992585 |
| Prostate cancer familial |
Associate |
14562027 |
| Prostatic Neoplasms |
Associate |
14562027, 15330195, 18544568, 20875115, 22549291, 27164191, 27399092, 27513235, 30133114, 31493422, 35292057, 35638715 |
| Prostatic Neoplasms Castration Resistant |
Associate |
20875115 |
| Prostatic Neoplasms Castration Resistant |
Stimulate |
35292057 |
| Prostatitis |
Associate |
11326315 |
| Pulmonary Arterial Hypertension |
Associate |
19357154 |
| Pulmonary Disease Chronic Obstructive |
Associate |
30665939, 32158203, 34820703, 36012391 |
| Renal Insufficiency |
Associate |
26647441 |
| Respiratory System Abnormalities |
Associate |
27272408 |
| Skin Neoplasms |
Associate |
10651994 |
| Sleep Initiation and Maintenance Disorders |
Associate |
36219910 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit |
22114726 |
| Stomach Neoplasms |
Associate |
18158559, 37783717 |
| Striae Distensae |
Associate |
37788597 |
| Subarachnoid Hemorrhage |
Associate |
33174039 |
| Ter Haar syndrome |
Associate |
19536304 |
| Thrombophilia |
Associate |
15237001 |
| Tooth Erosion |
Associate |
31616008 |
| Triple Negative Breast Neoplasms |
Associate |
33906328, 34326372 |
| Uniparental Disomy |
Associate |
31251480 |
| Urinary Bladder Diseases |
Associate |
24358191 |
| Urinary Bladder Neoplasms |
Inhibit |
21990318 |
| Urinary Bladder Neoplasms |
Associate |
23886208, 24358191, 33692504, 40528211 |
| Uterine Cervical Neoplasms |
Associate |
23794133, 32975231, 38376298 |
| Vision Disorders |
Associate |
16319821, 25950505 |
|