| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs143153871 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Stop gained, coding sequence variant |
| rs151110146 |
G>A |
Pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs201836415 |
C>A,G |
Likely-pathogenic |
Splice acceptor variant |
| rs560785131 |
C>T |
Likely-pathogenic |
Splice donor variant |
| rs730882048 |
A>- |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, frameshift variant |
| rs746142129 |
CA>- |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, inframe indel, stop gained |
| rs750903875 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs758499439 |
A>T |
Likely-pathogenic |
Splice donor variant |
| rs763401560 |
AAGT>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Coding sequence variant, frameshift variant |
| rs764640893 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793295 |
A>G |
Pathogenic |
Initiator codon variant, missense variant |
| rs1064794088 |
A>C,T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1064794116 |
T>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1554411684 |
GCAA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1590129294 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1590129487 |
TC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Breast carcinoma |
Likely pathogenic |
rs764640893 |
RCV001663392 |
| Familial prostate cancer |
Likely pathogenic |
rs560785131 |
RCV005899657 |
| Hereditary cancer-predisposing syndrome |
Likely pathogenic; Pathogenic |
rs1064794088, rs2485881210, rs2485880908, rs2485882087, rs2098027525, rs2485881817, rs2485915620, rs2485881405, rs2485881992, rs1064793297, rs560785131, rs1064793295, rs1590129487, rs201836415, rs764640893 |
RCV002363888 RCV002340537 RCV002360114 RCV002403816 RCV002401648 RCV002450253 RCV002426242 RCV003296719 RCV003377784 RCV004521373 RCV001021395 RCV002435642 RCV001023237 RCV001010393 RCV002451408 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Colon cancer |
Conflicting classifications of pathogenicity |
rs61762969 |
RCV000211556 |
| Colorectal cancer |
Conflicting classifications of pathogenicity |
rs368445278 |
RCV000417310 |
| Fanconi anemia complementation group U |
Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign |
rs140214637, rs61762969, rs587780130, rs149186933, rs145085742, rs41274991, rs56103026, rs149099078, rs730882043, rs3218472, rs534746330, rs143856570, rs200363289, rs2485880314, rs762828701, rs569810249, rs146700851, rs143153871, rs3218537, rs774296079, rs746142129, rs763401560, rs764640893, rs151110146, rs765021741, rs776959023, rs3218536, rs771671971, rs946075316, rs775565256, rs142527605, rs770438650, rs776710231 View all (18 more) |
RCV000988018 RCV000988014 RCV005031608 RCV005031609 RCV000988009 RCV000988020 RCV000988015 RCV000765951 RCV001330061 RCV003316162 RCV000988011 RCV000988016 RCV000988021 RCV003142303 RCV000988013 RCV000765952 RCV003316531 RCV000022966 RCV005055112 RCV001292718 RCV005034015 RCV000988017 RCV001251190 RCV005034145 RCV002483544 RCV004760626 RCV003316748 RCV000988010 RCV000988012 RCV005392320 RCV000988019 RCV005047216 RCV005036295 |
| Hereditary breast ovarian cancer syndrome |
Uncertain significance; Conflicting classifications of pathogenicity |
rs1064795954, rs1590129294 |
RCV001030743 RCV000787936 |
| Malignant tumor of unknown origin |
Conflicting classifications of pathogenicity |
rs730882048 |
RCV006255158 |
| Ovarian serous cystadenocarcinoma |
Conflicting classifications of pathogenicity |
rs140214637 |
RCV005887926 |
| Premature ovarian failure 17 |
Conflicting classifications of pathogenicity; Uncertain significance |
rs140214637, rs587780130, rs149186933, rs746142129, rs764640893, rs151110146, rs765021741, rs775565256, rs770438650, rs776710231, rs757140620 |
RCV005031607 RCV005031608 RCV005031609 RCV005034015 RCV005044718 RCV005034145 RCV002483544 RCV005392320 RCV005047216 RCV005036295 RCV001280535 |
| Short stature, microcephaly, and endocrine dysfunction |
Conflicting classifications of pathogenicity |
rs143153871 |
RCV001261591 |
| Spermatogenic failure 50 |
Conflicting classifications of pathogenicity; Uncertain significance |
rs140214637, rs587780130, rs149186933, rs746142129, rs764640893, rs151110146, rs765021741, rs775565256, rs770438650, rs776710231, rs757140620 |
RCV005031607 RCV005031608 RCV005031609 RCV005034015 RCV005044718 RCV005034145 RCV002483544 RCV005392320 RCV005047216 RCV005036295 RCV001280534 |
| XRCC2-related disorder |
Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign |
rs140214637, rs180805457, rs145085742, rs558977371, rs202226401, rs185815454, rs2485881111, rs374213093, rs765796648, rs777753452, rs762701579, rs770438650, rs139923743, rs587780127, rs759300252, rs768232997, rs1369229971 View all (2 more) |
RCV003945051 RCV004748584 RCV003925117 RCV003975115 RCV003965049 RCV003897576 RCV003410560 RCV003892129 RCV003970134 RCV003401518 RCV003401515 RCV003935576 RCV003915666 RCV003411828 RCV003908436 RCV003898192 RCV004731103 RCV003398955 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
26383589 |
| Anemia Hemolytic |
Associate |
27208205 |
| Ataxia Telangiectasia |
Associate |
30566856 |
| Breast Neoplasms |
Associate |
21290343, 21701125, 22464251, 23441864, 24642895, 25556451, 26787654, 29255180, 29433565, 30180900, 31370865, 31463769, 35061678, 35691022, 37774058, 39684352 View all (1 more) |
| Carcinoma Hepatocellular |
Associate |
32258128, 32277685 |
| Carcinoma Non Small Cell Lung |
Associate |
21647442 |
| Carcinoma Pancreatic Ductal |
Associate |
35171259 |
| Colorectal Neoplasms |
Associate |
21104022, 28977800, 29748531, 32277685, 32458654 |
| Developmental Disabilities |
Associate |
29061174 |
| Disease |
Associate |
30712190 |
| Drug Hypersensitivity |
Associate |
27208205 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
24485306 |
| Endometrial Neoplasms |
Associate |
26017882, 38518807 |
| Fanconi Anemia |
Associate |
22464251, 23620800, 31584931 |
| Glioma |
Associate |
23534771 |
| Head and Neck Neoplasms |
Associate |
29038438, 37774056 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
23300655, 29255180, 30306255 |
| Hypoxia |
Inhibit |
39236027 |
| Lung Neoplasms |
Associate |
32277685, 39236027 |
| Lymphatic Metastasis |
Associate |
24728564 |
| Lymphatic Metastasis |
Stimulate |
28977800 |
| Meningioma |
Associate |
23534771 |
| Mouth Neoplasms |
Associate |
22726897 |
| Nasopharyngeal Carcinoma |
Associate |
27356695 |
| Neoplasm Metastasis |
Associate |
34154613 |
| Neoplasms |
Associate |
21104022, 24728564, 25428673, 26017882, 26320178, 30836272, 30870501, 31584931, 32277685, 37344587 |
| Neoplasms |
Inhibit |
32669601 |
| Obesity Abdominal |
Associate |
38518807 |
| Ovarian Neoplasms |
Associate |
19127255, 30712190, 37344587 |
| Ovarian Neoplasms |
Stimulate |
30712190 |
| Pancreatic Neoplasms |
Associate |
16540687, 17986315, 35171259 |
| Prostatic Neoplasms |
Associate |
26339569, 37733366 |
| Radiation Injuries |
Associate |
21286719 |
| Radiation Pneumonitis |
Associate |
21647442 |
| Rectal Neoplasms |
Associate |
26320178 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
33714009 |
| Stomach Neoplasms |
Associate |
25428673, 26590607, 39206620 |
| T Lymphocytopenia Idiopathic CD4 Positive |
Associate |
37344587 |
| Testicular Germ Cell Tumor |
Associate |
25609015, 30870501 |
| Thyroid Neoplasms |
Stimulate |
24377596 |
| Thyroid Neoplasms |
Associate |
24377596, 26938431 |
| Triple Negative Breast Neoplasms |
Associate |
24728564, 25743260 |
| Uterine Cervical Neoplasms |
Associate |
23539294, 24485306, 34319032, 35996502 |
|