| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Abnormality of blood and blood-forming tissues |
Likely pathogenic |
rs2141946259 |
RCV001814342 |
| Autosomal recessive cerebellar ataxia |
Likely pathogenic; Pathogenic |
rs147105770 |
RCV005429220 |
| Cockayne syndrome |
Likely pathogenic; Pathogenic |
rs1314323456, rs774510191, rs779091652, rs753325454, rs762738968, rs1355878901, rs1419167361, rs2543161072, rs900093826, rs1355589374, rs772432152, rs780647908, rs2543161364, rs750971687, rs201179693, rs758362908, rs2543174139, rs753149023, rs1258096180, rs1555468482, rs2020959, rs397509400, rs149364215, rs397509404, rs147105770, rs2032155264, rs772899497 View all (12 more) |
RCV001377820 RCV001389442 RCV003772149 RCV001869789 RCV001919468 RCV002037756 RCV001917980 RCV003061403 RCV002595685 RCV002909338 RCV001855213 RCV003782518 RCV003797867 RCV003781269 RCV003781677 RCV003780144 RCV003792893 RCV003792676 RCV003817876 RCV000651478 RCV000822020 RCV005213201 RCV001067959 RCV001853034 RCV000700109 RCV001212995 RCV001239295 |
| ERCC4-related disorder |
Likely pathogenic; Pathogenic |
rs147105770 |
RCV003415812 |
| ERCC4-Related Disorders |
Pathogenic; Likely pathogenic |
rs753325454, rs149364215 |
RCV004782796 RCV004700343 |
| Fanconi anemia complementation group Q |
Likely pathogenic; Pathogenic |
rs1314323456, rs774510191, rs2141946068, rs779091652, rs753325454, rs587777943, rs762738968, rs1355878901, rs1419167361, rs2543161072, rs900093826, rs1355589374, rs772432152, rs780647908, rs2543161364, rs750971687, rs201179693, rs758362908, rs2543174139, rs753149023, rs1258096180, rs1555468482, rs2020959, rs397509400, rs149364215, rs397509401, rs397509402, rs397509404, rs147105770, rs2032155264, rs772899497 View all (16 more) |
RCV001377820 RCV001389442 RCV001554280 RCV003772149 RCV001869789 RCV005016423 RCV001919468 RCV002037756 RCV001917980 RCV003061403 RCV002595685 RCV002909338 RCV001855213 RCV003782518 RCV003797867 RCV003781269 RCV003781677 RCV003780144 RCV003792893 RCV003792676 RCV003817876 RCV000651478 RCV000822020 RCV000049244 RCV001067959 RCV000049246 RCV000049247 RCV001853034 RCV000700109 RCV001212995 RCV001239295 |
| Ovarian cancer |
Likely pathogenic |
rs766652186 |
RCV003154805 |
| Precursor B-cell acute lymphoblastic leukemia |
Pathogenic |
rs397509400 |
RCV000722038 |
| Spastic ataxia |
Pathogenic |
rs397509404 |
RCV001646986 |
| Xeroderma pigmentosum |
Likely pathogenic; Pathogenic |
rs1314323456, rs587777943, rs2543179894, rs2141940032, rs147105770 |
RCV003226467 RCV002259275 RCV003155758 RCV003226760 RCV002222373 |
| Xeroderma pigmentosum, group F |
Likely pathogenic; Pathogenic |
rs1314323456, rs774510191, rs779091652, rs753325454, rs587777943, rs762738968, rs1355878901, rs1419167361, rs2543169545, rs2141619663, rs2543161072, rs900093826, rs1355589374, rs772432152, rs780647908, rs2543161364, rs750971687, rs201179693, rs758362908, rs2543174139, rs753149023, rs1258096180, rs869025184, rs1555468482, rs2020959, rs397509400, rs149364215, rs397509401, rs397509403, rs397509404, rs147105770, rs2032155264, rs772899497 View all (18 more) |
RCV001377820 RCV001389442 RCV003772149 RCV001869789 RCV005016423 RCV001919468 RCV002037756 RCV001917980 RCV002288435 RCV002468705 RCV003061403 RCV002595685 RCV002909338 RCV001855213 RCV003782518 RCV003797867 RCV003781269 RCV003781677 RCV003780144 RCV003792893 RCV003792676 RCV003817876 RCV000018047 RCV000651478 RCV000822020 RCV005213201 RCV001067959 RCV001310216 RCV004814985 RCV001853034 RCV000700109 RCV001212995 RCV001239295 |
| Xeroderma pigmentosum, type F/Cockayne syndrome |
Likely pathogenic; Pathogenic |
rs397509403, rs397509404, rs147105770 |
RCV000049248 RCV000049249 RCV000049250 |
| XFE progeroid syndrome |
Likely pathogenic; Pathogenic |
rs587777943, rs772432152, rs780647908, rs201179693, rs1258096180, rs121913050, rs2020959, rs149364215, rs147105770 |
RCV005016423 RCV005016680 RCV005014968 RCV005014966 RCV005014980 RCV000018049 RCV005021255 RCV005016345 RCV000762956 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
29739952, 37006075 |
| Adenocarcinoma of Lung |
Associate |
19297315 |
| Anemia Hemolytic |
Associate |
32111838 |
| Atherosclerosis |
Associate |
36071684 |
| Bovine Respiratory Disease Complex |
Associate |
30165384 |
| Breast Diseases |
Associate |
19124519 |
| Breast Neoplasms |
Associate |
18551366, 18701435, 19124519, 19423537, 19920816, 21622940, 21700777, 23852586, 23909490, 24465539, 31499327, 33067872 |
| Breast Neoplasms |
Inhibit |
23852586 |
| Carcinoma Acinar Cell |
Associate |
33202356 |
| Carcinoma Adenoid Cystic |
Associate |
33202356 |
| Carcinoma Hepatocellular |
Associate |
26967386 |
| Carcinoma Mucoepidermoid |
Associate |
33202356 |
| Carcinoma Non Small Cell Lung |
Stimulate |
17118488 |
| Carcinoma Non Small Cell Lung |
Associate |
26045829, 33422766, 33827099, 38279246 |
| Carcinoma Non Small Cell Lung |
Inhibit |
32344513 |
| Carcinoma Pancreatic Ductal |
Associate |
36409970 |
| Carcinoma Squamous Cell |
Associate |
32901726 |
| Carotid Stenosis |
Associate |
36071684 |
| Cockayne Syndrome |
Associate |
23623389, 29105242, 29325523, 30165384, 30658521, 34096589 |
| Colorectal Neoplasms |
Associate |
29568775, 31568607 |
| Congenital Hereditary and Neonatal Diseases and Abnormalities |
Associate |
30658521 |
| Death |
Associate |
24793015, 26427666, 37798436 |
| DNA Virus Infections |
Associate |
30658521 |
| Drug Hypersensitivity |
Associate |
23982883 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
20418188, 21452186 |
| Esophageal Neoplasms |
Associate |
24709955 |
| Esophageal Squamous Cell Carcinoma |
Associate |
24709955 |
| Fanconi Anemia |
Associate |
23623386, 23623389, 24351291, 24465539, 29105242, 29325523, 30658521 |
| Gastrointestinal Stromal Tumors |
Associate |
27460091 |
| Glioma |
Associate |
23991957, 24634177, 24938470 |
| Granulosa cell tumor of the ovary |
Associate |
31906898 |
| Head and Neck Neoplasms |
Associate |
23720401, 24487794, 25019640 |
| Helicobacter Infections |
Associate |
23679285 |
| Hereditary Sensory and Autonomic Neuropathies |
Associate |
25340731 |
| Heredodegenerative Disorders Nervous System |
Associate |
9579555 |
| Hypertension |
Associate |
31924810 |
| Keratosis Actinic |
Associate |
24636351 |
| Leukemia Lymphoma Adult T Cell |
Associate |
33649200 |
| Leukemia Myeloid Acute |
Associate |
26779634, 32868804 |
| Lung Neoplasms |
Associate |
19887610, 28464886, 32344513, 37006075 |
| Margins of Excision |
Associate |
26085086, 30658521, 31499327, 39523403 |
| Melanoma |
Associate |
23659246, 23982883 |
| Melanoma Cutaneous Malignant |
Associate |
26427666 |
| Meningioma |
Stimulate |
20150366 |
| Meningioma |
Associate |
20150366 |
| Myelodysplastic Syndromes |
Associate |
28472728 |
| Neoplasms |
Associate |
18544627, 19124519, 19723666, 21452186, 21677381, 21737503, 22848636, 24318989, 24662920, 24709955, 24793015, 25634215, 26427666, 28878254, 31924810, 32901726, 33422766, 37798436 View all (3 more) |
| Neoplasms |
Stimulate |
22460090, 28464886 |
| Neuroblastoma |
Associate |
29544698 |
| Neurologic Manifestations |
Associate |
9579555 |
| Neuroma Acoustic |
Associate |
20150366 |
| Neutropenia |
Associate |
25340731 |
| Oculocerebral hypopigmentation syndrome type Preus |
Associate |
14728600 |
| Oculocerebrorenal Syndrome |
Associate |
26085086 |
| Oropharyngeal Neoplasms |
Associate |
22848636 |
| Osteogenesis Imperfecta |
Associate |
35052464 |
| Osteosarcoma |
Associate |
36271359 |
| Pancreatic Neoplasms |
Inhibit |
18544627 |
| Pancreatic Neoplasms |
Associate |
18544627, 39256447 |
| Postoperative Nausea and Vomiting |
Associate |
37924126 |
| Progeria |
Associate |
30658521 |
| Progeroid syndrome neonatal |
Associate |
29105242 |
| Prostatic Neoplasms |
Associate |
27974699 |
| Q Fever |
Associate |
24465539 |
| Renal Insufficiency Chronic |
Associate |
31924810 |
| Salivary Gland Neoplasms |
Associate |
33202356 |
| Sarcoma |
Associate |
28878254, 34308104 |
| Small Cell Lung Carcinoma |
Associate |
37006075 |
| Smoke Inhalation Injury |
Associate |
23720401 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
21737503, 22848636, 24064970, 25019640, 32901726, 40076972 |
| Stomach Neoplasms |
Associate |
23166636, 23679285, 24318989, 24793015, 27340861, 28415781, 30417012 |
| Sunburn |
Associate |
30665703 |
| Triple Negative Breast Neoplasms |
Associate |
21138871 |
| Urinary Bladder Neoplasms |
Associate |
22460090, 25535740, 27862976 |
| Vomiting |
Associate |
28686330 |
| Xeroderma Pigmentosum |
Associate |
18470933, 18927284, 21388382, 23623386, 23623389, 28130555, 29325523, 30165384, 30516811, 30658521, 30665703, 32111838, 37364129, 9579555 |
| Xeroderma Pigmentosum B Cockayne Syndrome |
Associate |
30658521 |
| Xeroderma Pigmentosum Complementation Group F |
Associate |
23909490, 26085086, 26681190 |
| XFE Progeroid Syndrome |
Associate |
23623386, 29105242, 30658521 |
|