| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Malignant tumor of urinary bladder |
- |
rs2143295744 |
RCV005922719 |
| Medulloblastoma |
- |
rs1057519971 |
RCV006254437 |
| Neoplasm |
Conflicting classifications of pathogenicity; -; Uncertain significance |
rs193920894, rs1057519968, rs1057519972, rs1057519971, rs2072168946 |
RCV005229977 RCV005231557 RCV005231561 RCV005231559 RCV006274068 |
| Prostate cancer |
Uncertain significance; Conflicting classifications of pathogenicity |
rs193921065, rs193920894, rs1057519966, rs2072151207, rs2072151354, rs2072151553, rs368288966, rs2072151628, rs2072151724, rs2072151984, rs2072151912, rs2072152068, rs2072152148, rs2072152226, rs2072152352, rs2072152422, rs2072152498, rs2072152689, rs2072152576, rs2072152764, rs2072152923, rs2072152852, rs2072153562, rs2072153652, rs1369267775, rs2072153847, rs2072153959, rs2072154143, rs2072154226, rs2072154321, rs2072154541, rs2072154471, rs888419251, rs2072154717, rs755810590, rs2072155041, rs2072155115, rs2072155189, rs2072155256, rs2072155403, rs2072156166, rs2072156282, rs2072156505, rs1464021387, rs2072156652, rs2072156869, rs2072156953, rs2072157028, rs910219777, rs2072157304, rs2072157444, rs2072157510, rs2072157582, rs2072157721, rs2072157644, rs2072157870, rs2072157795, rs2072162818, rs2072162929, rs758435270, rs2072163144, rs2072163247, rs2072163398, rs2072163482, rs2072163565, rs2072163730, rs2072163812, rs2072163963, rs2072164040, rs2072164119, rs2072164479, rs866898949, rs2072164630, rs2072164774, rs2072164846, rs2072164911, rs2072165021, rs2072165101, rs2072165184, rs2072165251, rs2072165338, rs2072165416, rs2072165503, rs2072165716, rs2072165869, rs2072166130, rs2072166000, rs2072166246, rs2072166335, rs2072166425, rs2072166478, rs2072166564, rs2072166806, rs2072167144, rs2072167062, rs1057519972, rs2072167329, rs2072167401, rs2072167625, rs2072167477, rs2072167548, rs2072167784, rs2072167703, rs2072167867, rs2072167947, rs780244378, rs2072168249, rs2072168323, rs2072168401, rs2072168475, rs2072168565, rs2072168635, rs2072168797, rs2072168867, rs2072168946, rs2072169063, rs2072169299, rs2072169385, rs2072169466, rs2072169642, rs1597921035, rs1305745002, rs1783574197, rs2072149162, rs2072149513, rs2072149581, rs2072150119, rs2072150446, rs2072151063, rs2072157936, rs2072157986, rs2072158257, rs778981076, rs1378635756, rs2072158937, rs2072159085, rs772247872, rs575257727, rs2072159591, rs2072159923, rs572136913, rs2072169727, rs2072169772, rs2072169964 View all (129 more) |
RCV000149021 RCV000149020 RCV001030831 RCV001030933 RCV001030951 RCV001030950 RCV001030949 RCV001030948 RCV001030833 RCV001030947 RCV001030946 RCV001030945 RCV001030944 RCV001030878 RCV001030943 RCV001030876 RCV001030877 RCV001030875 RCV001030874 RCV001030873 RCV001030872 RCV001030871 RCV001030870 RCV001030867 RCV001030869 RCV001030868 RCV001030866 RCV001030864 RCV001030865 RCV001030862 RCV001030863 RCV001030861 RCV001030860 RCV001030859 RCV001030858 RCV001030857 RCV001030856 RCV001030942 RCV001030855 RCV001030832 RCV001030941 RCV001030940 RCV001030939 RCV001030937 RCV001030938 RCV001030936 RCV001030935 RCV001030934 RCV001030932 RCV001030931 RCV001030930 RCV001030929 RCV001030928 RCV001030927 RCV001030926 RCV001030925 RCV001030924 RCV001030923 RCV001030922 RCV001030921 RCV001030920 RCV001030919 RCV001030854 RCV001030853 RCV001030852 RCV001030851 RCV001030849 RCV001030850 RCV001030918 RCV001030917 RCV001030916 RCV001030915 RCV001030914 RCV001030913 RCV001030912 RCV001030911 RCV001030910 RCV001030909 RCV001030908 RCV001030907 RCV001030906 RCV001030905 RCV001030904 RCV001030903 RCV001030990 RCV001030989 RCV001030988 RCV001030987 RCV001030986 RCV001030985 RCV001030984 RCV001030983 RCV001030982 RCV001030981 RCV001030980 RCV001030979 RCV001030978 RCV001030977 RCV001030976 RCV001030975 RCV001030974 RCV001030973 RCV001030972 RCV001030971 RCV001030970 RCV001030969 RCV001030968 RCV001030967 RCV001030902 RCV001030901 RCV001030900 RCV001030899 RCV001030898 RCV001030897 RCV001030896 RCV001030895 RCV001030894 RCV001030893 RCV001030892 RCV001030891 RCV001030890 RCV001030889 RCV001030888 RCV001030887 RCV001030886 RCV001030885 RCV001030884 RCV001030883 RCV001030882 RCV001030881 RCV001030880 RCV001030879 RCV001030966 RCV001030965 RCV001030964 RCV001030954 RCV001030953 RCV001030952 RCV001030959 RCV001030958 RCV001030957 RCV001030956 RCV001030955 RCV001030960 RCV001030840 RCV001030839 RCV001030838 RCV001030848 RCV001030834 RCV001030836 RCV001030835 RCV001030837 RCV001030842 RCV001030841 RCV001030843 RCV001030844 RCV001030845 RCV001030846 RCV001030847 RCV001030962 RCV001030963 RCV001030961 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
25274033, 29295717, 30720096, 32233522 |
| Adenocarcinoma |
Inhibit |
37327205 |
| Adenoma |
Associate |
27494611 |
| Adenomatoid Tumor |
Associate |
28580939 |
| Alzheimer Disease |
Associate |
32345668, 32568785 |
| Brain Neoplasms |
Associate |
22688887 |
| Breast Neoplasms |
Associate |
23559371, 30244836 |
| Carcinogenesis |
Associate |
27780719, 28599312, 30237511, 33247697, 34987184, 35438056 |
| Carcinogenesis |
Inhibit |
34509929 |
| Carcinoma Hepatocellular |
Associate |
26156804, 37996058 |
| Carcinoma Non Small Cell Lung |
Associate |
30407707, 35909476 |
| Carcinoma Renal Cell |
Associate |
28718916, 33602681, 36474188 |
| Carcinoma Renal Cell |
Stimulate |
30197334 |
| Colorectal Neoplasms |
Associate |
26505385, 28599312 |
| Congenital Abnormalities |
Associate |
32109420 |
| Congenital thrombotic disease due to Protein C deficiency |
Associate |
23559371 |
| Developmental Disabilities |
Associate |
32109420 |
| Disease |
Inhibit |
24451148 |
| Disease |
Associate |
37239316 |
| Endometrial Neoplasms |
Associate |
23104009, 25766326, 28485815, 33602681, 36481790, 37904149 |
| Facial Dysmorphism with Multiple Malformations |
Associate |
32109420 |
| Glioblastoma |
Associate |
37382594 |
| Glioma |
Associate |
22688887 |
| Hemoglobinopathies |
Associate |
31126914 |
| Hepatoblastoma |
Associate |
26156804 |
| Hypertelorism |
Associate |
32109420 |
| Intellectual Disability |
Associate |
32109420 |
| Lymphatic Metastasis |
Stimulate |
36042498 |
| Megalencephaly |
Associate |
32109420 |
| Microcephaly |
Associate |
32109420 |
| Neoplasm Metastasis |
Associate |
26156804, 28599312, 36042498 |
| Neoplasms |
Associate |
22610119, 24451148, 24563616, 24969063, 24994784, 26505385, 26544944, 26657081, 27614073, 27626165, 30290146, 30595538, 31771591, 32109420, 32624276, 33568750, 34783071, 35194034, 35909476, 36474188, 36481790, 36791496, 36868187, 37581614, 38246227 View all (10 more) |
| Neoplasms |
Inhibit |
23559371, 24994784, 25274033, 26156804, 26344095, 26527005, 28599312, 28805820, 28810879, 29108467, 29996942, 30244836, 34509929, 37996058 |
| Neoplasms Cystic Mucinous and Serous |
Associate |
23104009 |
| Nonsyndromic Holoprosencephaly |
Associate |
27494611 |
| Osteosarcoma |
Inhibit |
29461588 |
| Personality Disorders |
Associate |
24994784 |
| Plagiocephaly and X linked mental retardation |
Associate |
32109420 |
| Prostate cancer familial |
Associate |
24796539 |
| Prostatic Intraepithelial Neoplasia |
Associate |
26542946 |
| Prostatic Neoplasms |
Associate |
22610119, 23559371, 24508459, 24563616, 24796539, 24969063, 24994784, 25201530, 25274033, 25278611, 26344095, 26344096, 26542946, 26544944, 27780719, 28448495, 28663546, 28805820, 28805822, 28810879, 29108467, 29461588, 29996942, 30068710, 30124983, 30479348, 30595538, 30882175, 31200842, 31771591, 31967940, 32109420, 32345668, 32364525, 32568785, 32624276, 33214693, 33247697, 33568750, 33872295, 34133717, 34509929, 34783071, 34897998, 34987184, 35194188, 35220606, 35347810, 35438056, 36275733, 36749655, 36791496, 37239316, 37461056, 37581614, 38017230, 38246227 View all (42 more) |
| Prostatic Neoplasms |
Inhibit |
24994784, 30237511 |
| Prostatic Neoplasms Castration Resistant |
Associate |
30068710, 35220606, 37581614 |
| Prostatitis |
Associate |
22610119, 24796539, 24994784, 26527005, 27780719, 34509929 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
31298378 |
| Stomach Neoplasms |
Stimulate |
35325318 |
| Stomach Neoplasms |
Associate |
38246227 |
| Uterine Cervical Neoplasms |
Associate |
35194034 |
| Uterine Cervical Neoplasms |
Stimulate |
36042498 |
|