abdominal aortic aneurysm | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:17398378, REF_RGD_ID:6893584 |
acute lymphoblastic leukemia | treatment | ISO | RGD:733483 | 9068941 | DNA:missense mutation:cds:677C>T (human) | RGD | PMID:21644011, REF_RGD_ID:10449407 |
acute lymphoblastic leukemia | disease_progression | ISO | RGD:733483 | 9068941 | DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) | RGD | PMID:19923983, REF_RGD_ID:10449398 |
acute myeloid leukemia | | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:17156840, REF_RGD_ID:10449408 |
Albuminuria | susceptibility | ISO | RGD:733483 | 9068941 | associated with Diabetes Mellitus more ... | RGD | PMID:22554825, REF_RGD_ID:6893631 |
alcoholic liver cirrhosis | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:25987440, REF_RGD_ID:14696749 |
amyotrophic lateral sclerosis | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :c.677C>T(human) | RGD | PMID:21128869, REF_RGD_ID:11565111 |
amyotrophic lateral sclerosis | no_association | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :c.677C>T(human) | RGD | PMID:21868135, REF_RGD_ID:11565173 |
anemia | susceptibility | ISO | RGD:733483 | 9068941 | associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma, DNA:SNP:: rs1801133(human) | RGD | PMID:25007187, REF_RGD_ID:11080979 |
angle-closure glaucoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:19936026, REF_RGD_ID:7387250 |
ankylosing spondylitis | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP:cds:677C>T (human) | RGD | PMID:25060515, REF_RGD_ID:42722610 |
Aortic Coarctation | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:19764075, REF_RGD_ID:4891157 |
aphthous stomatitis | severity | ISO | RGD:733483 | 9068941 | DNA:missense mutation:cds:677C>T (rs1801133) (human) | RGD | PMID:23665953, REF_RGD_ID:10449402 |
Arterial Occlusive Diseases | | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T (human) | RGD | PMID:10477457, REF_RGD_ID:10449401 |
asthma | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:20456312, REF_RGD_ID:4891145 |
atherosclerosis | severity | ISO | RGD:733483 | 9068941 | associated with Kidney Failure more ... | RGD | PMID:17899317, REF_RGD_ID:6893579 |
attention deficit hyperactivity disorder | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A>C, 677C>T(human) | RGD | PMID:21819229, REF_RGD_ID:11565109 |
attention deficit hyperactivity disorder | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :1298A>C(human) | RGD | PMID:21897766, REF_RGD_ID:11565107 |
Banti's Syndrome | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:18685811, REF_RGD_ID:10755472 |
Budd-Chiari syndrome | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:26238013, REF_RGD_ID:11537993 |
Budd-Chiari syndrome | | ISO | RGD:733483 | 9068941 | DNA:transition: :677C>T (human) | RGD | PMID:12221667, REF_RGD_ID:10449395 |
cardia cancer | no_association | ISO | RGD:733483 | 9068941 | associated with stomach cancer, DNA:missense mutation:cds:g.677C>T (human) | RGD | PMID:24615072, REF_RGD_ID:38501052 |
cardiovascular system disease | | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:12187094, REF_RGD_ID:1580585 |
carotid stenosis | | ISO | RGD:733483 | 9068941 | DNA:SNP:CDS:rs1801133 more ... | RGD | PMID:15748240, REF_RGD_ID:5509914 |
cataract | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs more ... | RGD | PMID:16310481, REF_RGD_ID:7387253 |
cerebral infarction | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:10929044, REF_RGD_ID:1580590 |
cervical cancer | susceptibility | ISO | RGD:733483 | 9068941 | DNA:missense mutation:cds:g.1298A>C (human) | RGD | PMID:27771518, REF_RGD_ID:38501051 |
Chemical and Drug Induced Liver Injury | treatment | ISO | RGD:733483 | 9068941 | associated with precursor lymphoblastic lymphoma/leukemia, DNA:SNP: :677C>T(human) | RGD | PMID:30545275, REF_RGD_ID:14696733 |
cholangiocarcinoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism (human) | RGD | PMID:17201138, REF_RGD_ID:2317119 |
chronic kidney disease | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism:cds:g.677C>T (human) | RGD | PMID:23595572, REF_RGD_ID:7244284 |
chronic myeloid leukemia | | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:17156840, REF_RGD_ID:10449408 |
clear cell renal cell carcinoma | severity | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:20039875, REF_RGD_ID:6893632 |
clear cell renal cell carcinoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:21489764, REF_RGD_ID:6893474 |
cleft lip | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :c.677C>T(human) | RGD | PMID:27387868, REF_RGD_ID:11565179 |
Conotruncal Cardiac Defects | no_association | ISO | RGD:733483 | 9068941 | DNA:SNPs:cds:c.677C>T, c.1298A>C (human) | RGD | PMID:12705333, REF_RGD_ID:11565174 |
coronary artery disease | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:12387655, REF_RGD_ID:6893453 |
coronary artery disease | no_association | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:15648053, REF_RGD_ID:1580579 |
Cytomegalovirus Infections | ameliorates | ISO | RGD:1551392 | 9068941 | | RGD | PMID:19609317, REF_RGD_ID:42722609 |
Cytomegalovirus Infections | | ISO | RGD:733483 | 9068941 | | RGD | PMID:19609317, REF_RGD_ID:42722609 |
dextro-looped transposition of the great arteries | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP: : rs1801133(human) | RGD | PMID:22868813, REF_RGD_ID:11565105 |
diabetes mellitus | no_association | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:9607212, REF_RGD_ID:38501049 |
Diabetic Nephropathies | no_association | ISO | RGD:733483 | 9068941 | associated with Diabetes Mellitus more ... | RGD | PMID:18280442, REF_RGD_ID:6893576 |
Diabetic Nephropathies | susceptibility | ISO | RGD:733483 | 9068941 | associated with Diabetes Mellitus more ... | RGD | PMID:14737040, REF_RGD_ID:6893524 |
diabetic retinopathy | susceptibility | ISO | RGD:733483 | 9068941 | associated with Diabetes Mellitus more ... | RGD | PMID:9040583, REF_RGD_ID:6893525 |
diffuse large B-cell lymphoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:17712558, REF_RGD_ID:6893517 |
Down syndrome | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs:cds:c.677C>T, c.1298A>C (human) | RGD | PMID:16489479, REF_RGD_ID:11565177 |
end stage renal disease | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:19520684, REF_RGD_ID:6893522 |
end stage renal disease | severity | ISO | RGD:733483 | 9068941 | associated with Diabetes Mellitus more ... | RGD | PMID:14737040, REF_RGD_ID:6893524 |
end stage renal disease | no_association | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:19520069, REF_RGD_ID:6893523 |
end stage renal disease | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transitions more ... | RGD | PMID:17899317, REF_RGD_ID:6893579 |
end stage renal disease | | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:25664255, REF_RGD_ID:14696732 |
Experimental Diabetes Mellitus | | ISO | RGD:1309952 | 9068941 | protein:decreased activity:kidney (rat) | RGD | PMID:9836532, REF_RGD_ID:6893689 |
eye disease | susceptibility | ISO | RGD:733483 | 9068941 | associated with Behcet Syndrome, DNA:SNP:cds:677C>T(human) | RGD | PMID:16299146, REF_RGD_ID:7387241 |
factor VIII deficiency | severity | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T (human) | RGD | PMID:22411997, REF_RGD_ID:10449409 |
factor VIII deficiency | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A>C (human) | RGD | PMID:22411997, REF_RGD_ID:10449409 |
familial Mediterranean fever | susceptibility | ISO | RGD:733483 | 9068941 | DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) | RGD | PMID:28543752, REF_RGD_ID:38501050 |
fatty liver disease | | ISO | RGD:733483 | 9068941 | associated with Hepatitis C more ... | RGD | PMID:15834927, REF_RGD_ID:1580580 |
glomerulonephritis | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:22111818, REF_RGD_ID:6893468 |
Graft vs Host Disease | treatment | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:19005482, REF_RGD_ID:6893635 |
Graves' disease | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP:cds:677C>T(human) | RGD | PMID:20941748, REF_RGD_ID:7387246 |
Habitual Abortions | | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T, 1298A>C (human) | RGD | PMID:22047507 more ... |
Habitual Abortions | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A>C (human) | RGD | PMID:19906129, REF_RGD_ID:10449411 |
Hearing Loss | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP:cds:677C>T(human) | RGD | PMID:21385350, REF_RGD_ID:7387225 |
Helicobacter Infections | susceptibility | ISO | RGD:733483 | 9068941 | associated with stomach cancer, DNA:missense mutation:cds:g.677C>T (human) | RGD | PMID:20957490 more ... |
Hematologic Neoplasms | treatment | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A>C (human) | RGD | PMID:21984221, REF_RGD_ID:10449413 |
Hematologic Neoplasms | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T (human) | RGD | PMID:21984221, REF_RGD_ID:10449413 |
hepatic veno-occlusive disease | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:24583625, REF_RGD_ID:14696752 |
hepatitis B | no_association | ISO | RGD:733483 | 9068941 | DNA:missense mutations:cds:g.1298A>C, g.2756A>G | RGD | PMID:18222012, REF_RGD_ID:38508898 |
hepatitis B | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:18222012, REF_RGD_ID:38508898 |
hepatocellular carcinoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:17659576, REF_RGD_ID:14696708 |
hepatocellular carcinoma | disease_progression | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:23996892, REF_RGD_ID:14696704 |
hepatocellular carcinoma | onset | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A>C(human) | RGD | PMID:19035314, REF_RGD_ID:14696707 |
hepatocellular carcinoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP more ... | RGD | PMID:17503006, REF_RGD_ID:14696703 |
hyperhomocysteinemia | | ISO | RGD:733483 | 9068941 | DNA:missense mutations, nonsense mutations:CDS:multiple (human) | RGD | PMID:10679944, REF_RGD_ID:1601421 |
hyperhomocysteinemia | treatment | ISO | RGD:733483 | 9068941 | associated with Ovarian Neoplasms, DNA:SNP: :677C>T (human) | RGD | PMID:12471611, REF_RGD_ID:10449400 |
hyperthyroidism | | ISO | RGD:1309952 | 9068941 | protein:increased activity:liver (rat) | RGD | PMID:7990714, REF_RGD_ID:6893690 |
hypopituitarism | | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:21107737, REF_RGD_ID:10449406 |
hypothyroidism | | ISO | RGD:1309952 | 9068941 | protein:decreased activity:liver (rat) | RGD | PMID:7990714, REF_RGD_ID:6893690 |
inflammatory bowel disease | | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A>C (human) | RGD | PMID:17111197, REF_RGD_ID:10449410 |
ischemia | susceptibility | ISO | RGD:733483 | 9068941 | associated with Retinal Vein Occlusion, DNA:SNP:cds:677C>T(human) | RGD | PMID:17719079, REF_RGD_ID:7387251 |
kidney failure | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:20433440, REF_RGD_ID:6893515 |
Kuhnt-Junius degeneration | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP:cds:rs1801133(human) | RGD | PMID:22065928, REF_RGD_ID:7387224 |
Left Ventricular Hypertrophy | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:25664255, REF_RGD_ID:14696732 |
liver benign neoplasm | onset | ISO | RGD:1309952 | 9068941 | mRNA:decreased expression:liver (rat) | RGD | PMID:22213190, REF_RGD_ID:6893663 |
liver cirrhosis | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:25987440, REF_RGD_ID:14696749 |
lung small cell carcinoma | severity | ISO | RGD:733483 | 9068941 | protein:missense mutation:cds:p.A222V (human) | RGD | PMID:17533396, REF_RGD_ID:4891158 |
male infertility | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :677C>T(human) | RGD | PMID:16247718, REF_RGD_ID:11565106 |
Meniere's disease | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T(rs1801133), 1298A>C(1801131)(human) | RGD | PMID:23484733, REF_RGD_ID:7387223 |
Microvascular Angina | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:17491230, REF_RGD_ID:4891159 |
migraine | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP:cds:677C>T(human) | RGD | PMID:21635773, REF_RGD_ID:7387244 |
migraine with aura | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP:cds:677C>T(human) | RGD | PMID:21635773, REF_RGD_ID:7387244 |
mitral valve disease | susceptibility | ISO | RGD:733483 | 9068941 | associated with rheumatic heart disease, DNA:SNP:cds:677C>T (human) | RGD | PMID:26813460, REF_RGD_ID:11537145 |
multiple myeloma | | ISO | RGD:733483 | 9068941 | DNA:missense mutations:cds:677C>T, 1298A>C (human) | RGD | PMID:24839819, REF_RGD_ID:10449397 |
myeloid neoplasm | | ISO | RGD:733483 | 9068941 | DNA:SNPs: :677C>T, 1298A>C (human) | RGD | PMID:23107469, REF_RGD_ID:10449419 |
myocardial infarction | | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T (human) | RGD | PMID:10090925, REF_RGD_ID:10449412 |
myocardial infarction | susceptibility | ISO | RGD:733483 | 9068941 | associated with Kidney Failure more ... | RGD | PMID:19272686, REF_RGD_ID:6893548 |
nephroblastoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:19346876, REF_RGD_ID:6893546 |
nephrosclerosis | | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:21613384, REF_RGD_ID:6893469 |
neural tube defect | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :677C>T(human) | RGD | PMID:8826441, REF_RGD_ID:11565102 |
non-alcoholic fatty liver disease | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) | RGD | PMID:17563923, REF_RGD_ID:14696748 |
non-alcoholic fatty liver disease | severity | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A > C (human) | RGD | PMID:24488901, REF_RGD_ID:14696706 |
non-arteritic anterior ischemic optic neuropathy | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :677C>T(human) | RGD | PMID:20162297, REF_RGD_ID:8693343 |
open-angle glaucoma | no_association | ISO | RGD:733483 | 9068941 | DNA:SNPs: : 677C>T, 1298A>C (human) | RGD | PMID:17558844, REF_RGD_ID:7387254 |
open-angle glaucoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:15808177, REF_RGD_ID:7387252 |
oral squamous cell carcinoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:missense mutation:cds:677C>T (human) | RGD | PMID:16365753, REF_RGD_ID:10449416 |
osteonecrosis | no_association | ISO | RGD:733483 | 9068941 | associated with Anemia more ... | RGD | PMID:9840906, REF_RGD_ID:10449417 |
osteosarcoma | treatment | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:19159907, REF_RGD_ID:6893634 |
pancreatic cancer | susceptibility | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :677C>T (human) | RGD | PMID:16737574, REF_RGD_ID:2317120 |
papillomavirus infectious disease | no_association | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:23444906, REF_RGD_ID:38501058 |
peripheral artery disease | susceptibility | ISO | RGD:733483 | 9068941 | associated with Diabetes Mellitus more ... | RGD | PMID:16274479, REF_RGD_ID:6893659 |
portal vein thrombosis | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:25987440 more ... |
rectal benign neoplasm | severity | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:21865946, REF_RGD_ID:6893664 |
renal artery disease | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:16760910, REF_RGD_ID:2313876 |
renal cell carcinoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:missense mutation:cds:p.A222V (rs1801133) (human) | RGD | PMID:18098291, REF_RGD_ID:6893654 |
retinal disease | | ISO | RGD:1551392 | 9068941 | | RGD | PMID:20532821, REF_RGD_ID:7387239 |
retinal vein occlusion | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:10485556, REF_RGD_ID:7387256 |
retinal vein occlusion | no_association | ISO | RGD:733483 | 9068941 | DNA:missense mutation:cds:677C>T (human) | RGD | PMID:24250697, REF_RGD_ID:10449421 |
retinal vein occlusion | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A>C(human) | RGD | PMID:23289804, REF_RGD_ID:10449405 |
rheumatoid arthritis | | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:23685257, REF_RGD_ID:7387222 |
schizophrenia | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:16172608, REF_RGD_ID:6893466 |
sickle cell anemia | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T (human) | RGD | PMID:20113291, REF_RGD_ID:10449420 |
sickle cell anemia | severity | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T (human) | RGD | PMID:22924497, REF_RGD_ID:10449403 |
sickle cell anemia | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :1298A>C (human) | RGD | PMID:22924497, REF_RGD_ID:10449403 |
smallpox | treatment | ISO | RGD:733483 | 9068941 | DNA:SNP:exon:rs1801133(human) | RGD | PMID:18454680, REF_RGD_ID:42722608 |
spina bifida | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:10791559, REF_RGD_ID:6893455 |
spina bifida | severity | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :677C>T(human) | RGD | PMID:12797455, REF_RGD_ID:11565104 |
spina bifida | no_association | ISO | RGD:733483 | 9068941 | DNA:polymorphism: :677C>T(human) | RGD | PMID:15022402, REF_RGD_ID:11565178 |
sporadic breast cancer | no_association | ISO | RGD:733483 | 9068941 | DNA:missense mutations:cds:g.677C>T, g.1298A>T (human) | RGD | PMID:28330681, REF_RGD_ID:38501055 |
squamous cell carcinoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:17627246, REF_RGD_ID:6893580 |
stomach cancer | no_association | ISO | RGD:733483 | 9068941 | DNA:missense mutation:cds:g.677C>T (human) | RGD | PMID:23183616 more ... |
Stroke | no_association | ISO | RGD:733483 | 9068941 | associated with Anemia more ... | RGD | PMID:9840906, REF_RGD_ID:10449417 |
Sudden Hearing Loss | | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T(human) | RGD | PMID:20798492, REF_RGD_ID:7387236 |
Sudden Hearing Loss | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP:cds:677C>T(human) | RGD | PMID:16572609, REF_RGD_ID:7387240 |
Sudden Hearing Loss | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNPs:cds:677C>T, 1298A>C(human) | RGD | PMID:15775757, REF_RGD_ID:7387243 |
tetralogy of Fallot | susceptibility | ISO | RGD:733483 | 9068941 | DNA:SNP: : rs1801133(human) | RGD | PMID:22868813, REF_RGD_ID:11565105 |
thrombocytopenia | no_association | ISO | RGD:733483 | 9068941 | associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma more ... | RGD | PMID:23498762, REF_RGD_ID:10449418 |
thrombocytopenia | | ISO | RGD:733483 | 9068941 | associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma, DNA:SNP: :1298A>C (human) | RGD | PMID:23498762, REF_RGD_ID:10449418 |
thrombophilia | | ISO | RGD:733483 | 9068941 | associated with Liver Cirrhosis more ... | RGD | PMID:16570355, REF_RGD_ID:10449396 |
thrombosis | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T (human) | RGD | PMID:10780318, REF_RGD_ID:10449414 |
Thrombotic Microangiopathies | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:19448163, REF_RGD_ID:6893633 |
transitional cell carcinoma | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transversion:cds:g.1298A>C (human) | RGD | PMID:21046286, REF_RGD_ID:6893477 |
type 1 diabetes mellitus | severity | ISO | RGD:733483 | 9068941 | DNA:transversion:cds:g.1298A>C (human) | RGD | PMID:18774994, REF_RGD_ID:6893652 |
type 2 diabetes mellitus | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:16828193, REF_RGD_ID:6893657 |
type 2 diabetes mellitus | no_association | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:19996639, REF_RGD_ID:6893653 |
type 2 diabetes mellitus | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:21186995, REF_RGD_ID:6893476 |
urinary bladder cancer | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition more ... | RGD | PMID:20146887, REF_RGD_ID:6893516 |
urinary bladder cancer | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:22126575, REF_RGD_ID:6893457 |
urinary bladder cancer | no_association | ISO | RGD:733483 | 9068941 | protein:missense mutation:cds:p.A222V (human) | RGD | PMID:17311259, REF_RGD_ID:6893597 |
urinary bladder cancer | susceptibility | ISO | RGD:733483 | 9068941 | DNA:transversion:cds:g.1298A>C (human) | RGD | PMID:19837268, REF_RGD_ID:6893521 |
Vascular Calcification | severity | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:21394321, REF_RGD_ID:6893475 |
Venous Thromboembolism | | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T (human) | RGD | PMID:25207100, REF_RGD_ID:10449399 |
Venous Thromboembolism | no_association | ISO | RGD:733483 | 9068941 | DNA:SNP: :677C>T, 1298A>C (human) | RGD | PMID:25207100, REF_RGD_ID:10449399 |
Venous Thrombosis | susceptibility | ISO | RGD:733483 | 9068941 | associated with Lupus Erythematosus more ... | RGD | PMID:22707612, REF_RGD_ID:6893602 |
Venous Thrombosis | | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:10929044, REF_RGD_ID:1580590 |
Venous Thrombosis | no_association | ISO | RGD:733483 | 9068941 | DNA:transition:cds:g.677C>T (human) | RGD | PMID:10792297, REF_RGD_ID:6893655 |
Venous Thrombosis | no_association | ISO | RGD:733483 | 9068941 | DNA:transition: :677C>T (human) | RGD | PMID:12442281, REF_RGD_ID:10449394 |