| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autoinflammatory syndrome |
Likely pathogenic; Pathogenic |
rs755338751, rs761810607, rs1478402636, rs753966933, rs200956636 |
RCV002264291 RCV002264502 RCV002264504 RCV002263695 RCV002263709 |
| Griscelli syndrome |
Pathogenic |
rs770601673 |
RCV000606194 |
| Griscelli syndrome type 2 |
Pathogenic; Likely pathogenic |
rs756644243, rs75258234, rs755338751, rs1896185846, rs765369750, rs1896186645, rs766632505, rs2140958324, rs757849893, rs2140958637, rs2140958268, rs761810607, rs1351114357, rs2140958498, rs757349638, rs1895983324, rs758986523, rs2542748548, rs28938176, rs1595695268, rs104894498, rs104894499, rs1595700039, rs104894500, rs2542814247, rs774131854, rs2542746463, rs775325548, rs1316745675, rs756071120, rs104894497, rs767481076, rs753966933, rs200956636, rs1555394745, rs770601673, rs766575263, rs1895696380, rs1895911610, rs1895912791, rs1894614852 View all (26 more) |
RCV001939967 RCV001387369 RCV001387346 RCV001824257 RCV002024285 RCV002003182 RCV001909428 RCV002037857 RCV002251778 RCV002251779 RCV002251781 RCV003101471 RCV003041238 RCV003058475 RCV003064283 RCV003058476 RCV002691117 RCV002833957 RCV000006348 RCV000006349 RCV000006352 RCV000006353 RCV000006354 RCV000006356 RCV002904302 RCV002988439 RCV003228216 RCV003316894 RCV003505961 RCV003616774 RCV003616939 RCV003989945 RCV000477784 RCV000850516 RCV000499859 RCV000644917 RCV001860238 RCV000705980 RCV000793635 RCV001222124 RCV001215059 RCV005002065 RCV001251148 |
| Multisystem inflammatory syndrome in children |
Pathogenic |
rs104894500 |
RCV001778648 |
| RAB27A-related disorder |
Pathogenic; Likely pathogenic |
rs75258234, rs767481076, rs753966933 |
RCV004749674 RCV003983090 RCV003925404 |
| See cases |
Pathogenic; Likely pathogenic |
rs104894500, rs756071120 |
RCV002251884 RCV002252221 |
|
| Disease Name |
Relationship Type |
References |
| Acrocephalopolydactylous Dysplasia |
Associate |
12058346 |
| Adenocarcinoma |
Associate |
36759514 |
| Albinism |
Associate |
35488210 |
| Albinism Oculocutaneous |
Associate |
25312756 |
| Albuminuria |
Stimulate |
32567349 |
| Alzheimer Disease |
Stimulate |
21669283 |
| Breast Neoplasms |
Associate |
18337447, 26178901, 34623384 |
| Carcinoma Hepatocellular |
Associate |
22553406, 26305877, 34777698, 36303180 |
| Carcinoma Non Small Cell Lung |
Associate |
30480360, 35136028 |
| Chediak Higashi Syndrome |
Associate |
19030707, 25425525 |
| Choroideremia |
Associate |
15186776, 24358126 |
| Cognition Disorders |
Stimulate |
21669283 |
| Cognitive Dysfunction |
Stimulate |
21669283 |
| Colitis Ulcerative |
Associate |
37249278 |
| Colorectal Neoplasms |
Associate |
26070933, 26760980, 36371494 |
| Cystic Fibrosis |
Associate |
24934256 |
| Death |
Associate |
22553406 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
17724145 |
| Endocrine System Diseases |
Associate |
19212825 |
| Fever |
Associate |
35870028 |
| Glioma |
Associate |
23029308, 23553027, 24587032 |
| Griscelli syndrome type 1 |
Associate |
11266474, 12058346, 15475639, 16551969, 18397837, 19030707, 21169636, 21314004, 25312756, 39807742 |
| Griscelli syndrome type 2 |
Associate |
19030707, 19704116, 20591709, 21169636, 21314004, 24587032, 25312756, 33985578, 34058999, 35870028, 36206192, 37368332, 37388727 |
| Griscelli syndrome type 3 |
Associate |
18397837 |
| Hemophagocytic lymphohistiocytosis familial 3 |
Associate |
19704116 |
| Hepatitis C |
Associate |
26305877 |
| Hypereosinophilic Syndrome |
Associate |
39679991 |
| Hypopigmentation |
Associate |
36243938, 37388727 |
| Immune System Diseases |
Associate |
12058346 |
| Immune System Diseases |
Inhibit |
37388727 |
| Immunologic Deficiency Syndromes |
Associate |
19704116, 21169636, 37388727 |
| Inflammation |
Associate |
18832576, 31824480, 39679991 |
| Limb girdle muscular dystrophy type 2B |
Associate |
18832576 |
| Lupus Erythematosus Systemic |
Associate |
34084162 |
| Lymphatic Metastasis |
Associate |
26070933, 35985682 |
| Lymphatic Metastasis |
Inhibit |
26760980 |
| Lymphohistiocytosis Hemophagocytic |
Associate |
12058346, 17255357, 18311812, 21169636, 24916509, 25312756, 26880764, 28270454, 32542393, 34058999, 35870028, 37388727 |
| Lymphoma |
Associate |
37388727 |
| Melanoma |
Associate |
21129771, 22948084, 23884313, 39596498, 40038749 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate |
12058346 |
| Neoplasm Metastasis |
Associate |
18337447, 26760980, 30480360 |
| Neoplasms |
Associate |
21129771, 22553406, 26070933, 26760980, 28546229, 30480360, 36371494, 37248891, 37685910, 39596498, 40038749 |
| Nervous System Diseases |
Associate |
20591709 |
| Peritonitis |
Associate |
36581340 |
| Pigmentation Disorders |
Associate |
25312756 |
| Primary Immunodeficiency Diseases |
Associate |
38644452 |
| Prostatitis |
Associate |
18413239 |
| Proteinuria |
Associate |
26420894 |
| Renal Insufficiency Chronic |
Associate |
26420894 |
| Rhinitis Allergic |
Associate |
39679991 |
| Sarcoma Alveolar Soft Part |
Associate |
37029109 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate |
37685910 |
| Status Asthmaticus |
Associate |
25431337 |
| Stomach Neoplasms |
Associate |
28546229, 35985682 |
| Urinary Bladder Neoplasms |
Associate |
22724020 |
|