| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs41545019 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs61754780 |
G>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs200639359 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs201033017 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs367544716 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs374133543 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs376456666 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs376667075 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs539295465 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs578113271 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs587776701 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs749929790 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs750876165 |
A>C,G |
Likely-pathogenic |
Splice acceptor variant |
|
rs751236312 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs751326348 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs756632960 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs757194485 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs758191157 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs763478027 |
TGTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs766672143 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs771721952 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs777054839 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant |
|
rs778610412 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs866260675 |
G>A,C |
Pathogenic |
Splice acceptor variant |
|
rs886037878 |
A>C |
Pathogenic |
Splice acceptor variant |
|
rs952650934 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1204002507 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1234762807 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1455445683 |
TTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1475633334 |
TTCCCGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554070317 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1561486630 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1561486632 |
AGAG>-,AG |
Pathogenic |
Coding sequence variant, stop gained, frameshift variant |
|
rs1580027407 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580027713 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs1580033751 |
->ATAT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580035033 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580035037 |
A>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1580045730 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs1580053768 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1580066605 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580091499 |
TGAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580091512 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580091639 |
TTTCATCAGAGATGTAAGTATCCGGTAAACTGTATTTAAAAAGAAATTAATTTGTAAATTATTATTTTTAAATGACAGTCATAATTGTGCCATATTTATGGGGTACAATGTGATGTTTTGAAACATATAAACAATATGGAGTGATTAAATTAACCTAATTAACACATTCCTCACCTCATTTAAATATCATTTTTTGTGGTGAGACATTTGAAATTTCTCTTAGTTATTTTGAAATATATATTATTACTGCTGTAG |
Likely-pathogenic |
Intron variant, splice donor variant, coding sequence variant |
|
rs1580546655 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580546793 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1580550290 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1580553607 |
T>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580553624 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580553669 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580556516 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1580589397 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580589429 |
GG>C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580589463 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1580597385 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1580597397 |
->AA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Adenomatous Polyposis |
familial adenomatous polyposis 4 |
rs1580546793, rs756190979, rs766672143, rs1580035033, rs374133543, rs371356175, rs776738086, rs1580066605, rs1580553669, rs758191157, rs886037878, rs550626088, rs1580589463, rs771721952, rs952650934, rs770330684, rs1580091499, rs1580597397, rs751326348, rs1561486630, rs1234762807, rs766997264, rs578113271, rs1580053768, rs1561486632, rs201033017, rs1580091512, rs1580033751, rs866260675, rs1580035037, rs1580556516, rs1749751715, rs1744356274, rs1450314617, rs757194485, rs1580553607, rs763478027, rs772520703, rs1455445683, rs1580589397, rs777054839, rs1744356530, rs1580027713, rs539295465, rs751236312, rs149350323, rs1580027407, rs1204002507, rs1743353294, rs1580540688, rs1580045730, rs1475633334, rs778610412, rs1379605717, rs587776701, rs1480047980, rs376667075, rs1580546655, rs1580553624, rs1744149615, rs367544716 View all (46 more) |
N/A |
| Endometrial carcinoma |
endometrial carcinoma |
rs376667075, rs374133543, rs1580553624, rs758191157, rs1744149615, rs1488467945, rs1580546793, rs1561486630, rs371356175, rs1580553669, rs1580053768, rs771721952, rs770330684, rs1580091499, rs1580597397, rs751326348, rs1234762807, rs766997264, rs1462955256, rs578113271, rs1561486632, rs201033017, rs1580033751, rs866260675, rs1580556516, rs777054839, rs1744356274, rs1450314617, rs757194485, rs1580538168, rs1580553607, rs763478027, rs1743353294, rs1580540688, rs1475633334, rs1480047980, rs1580027713, rs539295465, rs751236312, rs149350323, rs1204002507, rs367544716, rs1259647122, rs756190979, rs766672143, rs778610412, rs1379605717, rs587776701 View all (33 more) |
N/A |
| neoplasm |
Neoplasm |
rs587776701 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Gastrointestinal stromal tumor |
gastrointestinal stromal tumor |
N/A |
N/A |
ClinVar |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Huntington Disease |
Huntington's disease progression |
N/A |
N/A |
GWAS |
| Lynch Syndrome |
Lynch syndrome |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
9764589 |
| Adenoma |
Associate
|
26510091, 34843512 |
| Adenomatous Polyposis Coli |
Associate
|
34250384, 34843512, 35675019 |
| Arthritis Rheumatoid |
Associate
|
15547100 |
| Astrocytoma |
Associate
|
27476653 |
| Attenuated familial adenomatous polyposis |
Associate
|
31285513, 34250384, 35675019 |
| Brain Neoplasms |
Associate
|
37423059 |
| Breast Neoplasms |
Associate
|
10098729, 15517899, 18701435, 19781088, 21700777, 25927356, 34250384, 39844241 |
| Carcinogenesis |
Associate
|
10934138, 34250384, 34843512 |
| Carcinoma Adenoid Cystic |
Associate
|
35218645 |
| Carcinoma Non Small Cell Lung |
Associate
|
28093084 |
| Carcinoma Pancreatic Ductal |
Associate
|
30532127 |
| Carcinoma Renal Cell |
Associate
|
37426643 |
| Cataract Age Related Nuclear |
Inhibit
|
35334159 |
| Chemotherapy Related Cognitive Impairment |
Associate
|
28093084 |
| Colitis Ulcerative |
Inhibit
|
31789935 |
| Colonic Neoplasms |
Associate
|
20979647, 23724141, 36108931 |
| Colonic Neoplasms |
Stimulate
|
24484585 |
| Colorectal Adenomatous Polyposis Autosomal Recessive |
Associate
|
27476653 |
| Colorectal Neoplasms |
Associate
|
10665647, 12057899, 18922920, 20565851, 22343000, 23226332, 23724141, 25461668, 25996601, 26247575, 26510091, 27430658, 27696107, 31127692, 33636974, 34488871, 34843512, 35675019, 37737217, 37888748, 8805365, 8805366 View all (7 more) |
| Colorectal Neoplasms |
Inhibit
|
31789935 |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Associate
|
26247575, 29568967, 36833239 |
| Dermatitis |
Associate
|
30590005 |
| Desmoplastic Small Round Cell Tumor |
Associate
|
32393201 |
| Diarrhea |
Associate
|
30590005 |
| DNA Repair Deficiency Disorders |
Associate
|
27131875 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
23724141, 25996601 |
| Dystonia 3 Torsion X Linked |
Associate
|
34050153, 35481544 |
| Endometrial Neoplasms |
Associate
|
9756907 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
26857264 |
| Friedreich Ataxia |
Associate
|
22787155 |
| HAIR AN syndrome |
Inhibit
|
32197467 |
| Hematologic Diseases |
Associate
|
28093084 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
10098729 |
| Huntington Disease |
Associate
|
34050153 |
| Hypoxia |
Inhibit
|
22343000, 26752111 |
| Immunologic Deficiency Syndromes |
Inhibit
|
23209772 |
| Inflammation |
Associate
|
25461668, 28066040, 31789935 |
| Inflammation |
Inhibit
|
26752111 |
| Intestinal Polyposis |
Associate
|
29367705, 34250384 |
| Leukemia Lymphoma Adult T Cell |
Associate
|
15682421 |
| Leukoplakia |
Associate
|
23437280 |
| Liver Failure |
Associate
|
35675019 |
| Lymphoma Large B Cell Diffuse |
Associate
|
24098683 |
| Lymphoma Non Hodgkin |
Associate
|
24098683 |
| Mesothelioma |
Associate
|
31887429 |
| Microsatellite Instability |
Associate
|
10665647, 10666234, 10934138, 20565851, 20979647, 23246972, 26247575, 31292272 |
| Microsatellite Instability |
Inhibit
|
16080527 |
| Multiple Myeloma |
Associate
|
30809292 |
| Multiple Sclerosis |
Associate
|
28892075 |
| Myelodysplastic Syndromes |
Associate
|
23339595 |
| Nasopharyngeal Carcinoma |
Associate
|
28656302 |
| Neoplasm Invasiveness |
Associate
|
35218645 |
| Neoplasm Metastasis |
Associate
|
26752111, 28066040 |
| Neoplasms |
Associate
|
10665647, 10666234, 18922920, 20565851, 20708618, 21821902, 22496206, 22623965, 25461668, 26247575, 26752111, 27476653, 28656302, 28892075, 30942098, 31292272, 32957448, 34250384, 35218645, 36833239, 37737217, 37888748, 7479796, 9111357, 9510473, 9764589 View all (11 more) |
| Neoplasms |
Inhibit
|
21108794 |
| Neoplastic Syndromes Hereditary |
Associate
|
27476653 |
| Nystagmus Pathologic |
Associate
|
32157568 |
| Osteoarthritis |
Associate
|
15547100 |
| Osteosarcoma |
Associate
|
36271359 |
| Ovarian Neoplasms |
Associate
|
16080527, 18723338 |
| Pancreatic Neoplasms |
Associate
|
21212431, 37024097 |
| Peutz Jeghers Syndrome |
Associate
|
20845481 |
| Pheochromocytoma |
Associate
|
40235160 |
| Polycythemia Vera |
Associate
|
37024097 |
| Polyps |
Associate
|
20845481 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
14510941, 16281935 |
| Prostatic Neoplasms |
Associate
|
18355840, 23464402 |
| Rectal Neoplasms |
Associate
|
30590005 |
| Retinal Dysplasia |
Inhibit
|
31789935 |
| Salivary Gland Neoplasms |
Associate
|
35218645 |
| Sigmoid Neoplasms |
Associate
|
20979647 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
23437280, 25906090, 33714009 |
| Stomach Neoplasms |
Associate
|
23317227, 26857264, 27476653 |
| Tachycardia Atrioventricular Nodal Reentry |
Associate
|
22496206 |
| Tuberculosis Multidrug Resistant |
Associate
|
24032744, 28388564 |
| Turcot syndrome |
Associate
|
10861262, 23724141 |
| Urinary Bladder Neoplasms |
Associate
|
11506498 |
|