| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| FANCF-related disorder |
Pathogenic; Likely pathogenic |
rs587778340, rs1858634789, rs1479457172 |
RCV004752688 RCV003412456 RCV004753158 |
| Fanconi anemia |
Pathogenic; Likely pathogenic |
rs2133798885, rs2133797345, rs2133798927, rs2133798073, rs1046564488, rs747622521, rs2494871663, rs2494869728, rs2494866075, rs730880277, rs587778340, rs2494871401, rs2133797511, rs2494867744, rs2494870839, rs1565055497, rs2133797177, rs1473308846, rs745495865, rs1479457172, rs753272712, rs1858636931, rs1858634363, rs1275961745 View all (9 more) |
RCV001389253 RCV001615378 RCV001970176 RCV001982108 RCV002255797 RCV002258415 RCV002517907 RCV002880987 RCV002966515 RCV002994700 RCV000472440 RCV000820044 RCV003016325 RCV003048995 RCV003636016 RCV003636026 RCV003636027 RCV003523185 RCV003636521 RCV000462200 RCV003769334 RCV002271604 RCV001050876 RCV001382650 RCV001383708 |
| Fanconi anemia complementation group F |
Likely pathogenic; Pathogenic |
rs754014970, rs2133798885, rs778546226, rs2133797515, rs2133798188, rs747622521, rs2494866075, rs730880277, rs104894221, rs587778340, rs104894222, rs2494867744, rs2494861863, rs2494870839, rs762741561, rs1565055497, rs2133797177, rs2494863251, rs1858626738, rs763240240, rs1376808000, rs2494864133, rs1277670335, rs764519472, rs2494865086, rs1458424462, rs1309840208, rs2494859893, rs2494868833, rs745495865, rs1479457172, rs753272712, rs766279442, rs1858634363, rs1275961745 View all (20 more) |
RCV005046692 RCV003469754 RCV001520573 RCV001520576 RCV002254006 RCV000190586 RCV004686755 RCV000006712 RCV000006714 RCV000006715 RCV000006716 RCV003459861 RCV003461482 RCV003461483 RCV003468149 RCV003461485 RCV003461486 RCV003468150 RCV003461487 RCV003461488 RCV003461489 RCV003468151 RCV004576565 RCV004576566 RCV004576567 RCV004576568 RCV004576569 RCV004576570 RCV004576571 RCV005049558 RCV001194788 RCV001194785 RCV001194787 RCV001194786 RCV001194784 |
|
|
|
| Disease Name |
Relationship Type |
References |
| Anemia Hemolytic |
Associate |
11167740, 14617007, 16803569 |
| Breast Diseases |
Associate |
23440494 |
| Breast Neoplasms |
Associate |
17932744, 22952942, 23440494, 24345874 |
| Carcinogenesis |
Associate |
14617007 |
| Carcinoma Non Small Cell Lung |
Associate |
25828518 |
| Carcinoma Squamous Cell |
Associate |
29617660 |
| Colorectal Neoplasms |
Associate |
32915143 |
| Fanconi Anemia |
Associate |
11001585, 11750104, 12239156, 15256425, 16127171, 17082180, 19405097, 29973652, 31288759, 9382107 |
| Fanconi Anemia |
Stimulate |
23440494 |
| Granulosa Cell Tumor |
Associate |
15574200 |
| Growth Disorders |
Associate |
31288759 |
| Hematologic Diseases |
Associate |
31288759 |
| Hereditary pancreatitis |
Associate |
28687971 |
| Hyperpigmentation |
Associate |
31288759 |
| Lung Neoplasms |
Associate |
26385482, 26438152 |
| Mesothelioma Malignant |
Associate |
28687356 |
| Microcephaly |
Associate |
31288759 |
| Neoplasms |
Associate |
15574200, 18607065, 28687971, 32778095, 32915143 |
| Neoplasms |
Inhibit |
22315424 |
| Ovarian Neoplasms |
Associate |
18414472, 22537224, 23440494, 30822218 |
| Pancytopenia |
Associate |
31288759 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
14617007 |
| Red Cell Aplasia Pure |
Associate |
29767669 |
| Sleep Deprivation |
Stimulate |
22952942 |
| Stomach Neoplasms |
Associate |
24748501 |
|