Search Summary
Search Criteria
Genotype Selection - Genes
7955
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Search Results
Association Results | 1 - 6 of 6 | Searched by gene IDs retrieved from gene search. |
Genes | 1 - 1 of 1 | Searched by gene names and/or gene IDs. |
SNPs | 1 - 50 of 20806 | Searched by gene symbols retrieved from gene search. |
eQTL Data | 1 - 38 of 38 | Searched by gene IDs retrieved from gene search. |
dbGaP Studies | 1 - 32 of 32 | Searched by traits retrieved from association results. |
Genome View | 1 gene over 1 chromosome. |
Search Criteria
Select broad trait category to limit the items shown in the trait selection.
Select trait for search. Selection of a trait will limit the trait categories shown above.
Data shown are selected columns matching search criteria, taken directly from NCBI’s GTEx database and browser. This database aims to provide a central resource to archive and display associations between genetic variation and high-throughput molecular-level phenotypes. This effort originated with the NIH GTEx roadmap project; however the scope of this resource will be extended to include any available genotype/molecular phenotype datasets.
Celiac Disease
Gene Search: CDKAL1
Location: MHC region
Genes
# | Symbol | Description | Location | OMIM | ||||||
---|---|---|---|---|---|---|---|---|---|---|
1 | RNF217-AS1 | RNF217 antisense RNA 1 (head to head) | 6 | : 124,963,027 - 124,908,243 | 602532 | |||||
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Association Results
# |
Trait |
rs # |
Context |
Gene |
Location |
P-value |
Source |
Study |
Population | PubMed |
|
---|---|---|---|---|---|---|---|---|---|---|---|
1 | Subcutaneous Fat | rs11154271 | intergenic | NKAIN2, RNF217-AS1 | 6 | : 124,835,303 | 1.000 x 10-6 | NHGRI | European | 22589738 | |
2 | Body Mass Index | rs812995 | intron | RNF217-AS1 | 6 | : 124,918,651 | 7.395 x 10-6 | dbGaP | phs000342 | European | 17903300 |
3 | Body Mass Index | rs812995 | intron | RNF217-AS1 | 6 | : 124,918,651 | 7.535 x 10-6 | dbGaP | phs000342 | European | 17903300 |
4 | Body Mass Index | rs812995 | intron | RNF217-AS1 | 6 | : 124,918,651 | 4.026 x 10-5 | dbGaP | phs000342 | European | 17903300 |
5 | Body Mass Index | rs812995 | intron | RNF217-AS1 | 6 | : 124,918,651 | 5.322 x 10-5 | dbGaP | phs000342 | European | 17903300 |
6 | Heart Failure | rs1326156 | intergenic | NKAIN2, RNF217-AS1 | 6 | : 124,860,545 | 3.657 x 10-4 | dbGaP | phs000226 | African American |
SNPs
# | rs# | Location | Function Class | Gene | Diversity | |
---|---|---|---|---|---|---|
1 | rs2114972742 | 6 | : 124,965,022 | genic_downstream_transcript_variant, intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, downstream_transcript_variant | RNF217-AS1, RNF217 | n/a |
2 | rs2114972449 | 6 | : 124,964,929 | genic_downstream_transcript_variant, intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, downstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
3 | rs2114972440 | 6 | : 124,964,920 | genic_downstream_transcript_variant, intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, downstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
4 | rs2114972382 | 6 | : 124,964,905 | genic_downstream_transcript_variant, intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, downstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
5 | rs2114972100 | 6 | : 124,964,823 | genic_downstream_transcript_variant, intron_variant, 5_prime_UTR_variant, upstream_transcript_variant, genic_upstream_transcript_variant, synonymous_variant, 2KB_upstream_variant, downstream_transcript_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
6 | rs2114971880 | 6 | : 124,964,769 | genic_downstream_transcript_variant, intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, synonymous_variant, 2KB_upstream_variant, downstream_transcript_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
7 | rs2114971823 | 6 | : 124,964,756 | genic_downstream_transcript_variant, intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, downstream_transcript_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
8 | rs2114971585 | 6 | : 124,964,650 | intron_variant, 3_prime_UTR_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | n/a |
9 | rs2114971033 | 6 | : 124,964,520 | intron_variant, 3_prime_UTR_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | n/a |
10 | rs2114970746 | 6 | : 124,964,442 | intron_variant, 3_prime_UTR_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | n/a |
11 | rs2114970682 | 6 | : 124,964,421 | intron_variant, 3_prime_UTR_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | Yes |
12 | rs2114970301 | 6 | : 124,964,331 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | Yes |
13 | rs2114970276 | 6 | : 124,964,326 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, synonymous_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
14 | rs2114970108 | 6 | : 124,964,286 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
15 | rs2114969707 | 6 | : 124,964,195 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | Yes |
16 | rs2114969389 | 6 | : 124,964,108 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | Yes |
17 | rs2114969087 | 6 | : 124,964,024 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
18 | rs2114968821 | 6 | : 124,963,951 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, synonymous_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
19 | rs2114968796 | 6 | : 124,963,949 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
20 | rs2114968576 | 6 | : 124,963,888 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, synonymous_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
21 | rs2114968192 | 6 | : 124,963,786 | intron_variant, upstream_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, synonymous_variant, coding_sequence_variant | RNF217-AS1, RNF217 | Yes |
22 | rs2114967678 | 6 | : 124,963,672 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | n/a |
23 | rs2114967593 | 6 | : 124,963,644 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | n/a |
24 | rs2114967331 | 6 | : 124,963,570 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | n/a |
25 | rs2114967312 | 6 | : 124,963,567 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | n/a |
26 | rs2114967173 | 6 | : 124,963,536 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
27 | rs2114966860 | 6 | : 124,963,471 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
28 | rs2114966193 | 6 | : 124,963,323 | upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
29 | rs2114965360 | 6 | : 124,963,193 | upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
30 | rs2114965210 | 6 | : 124,963,166 | upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
31 | rs2114965111 | 6 | : 124,963,150 | upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, synonymous_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
32 | rs2114965057 | 6 | : 124,963,143 | upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, 2KB_upstream_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
33 | rs2114964507 | 6 | : 124,963,051 | upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, 2KB_upstream_variant, synonymous_variant, coding_sequence_variant | RNF217-AS1, RNF217 | Yes |
34 | rs2114963380 | 6 | : 124,962,885 | upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
35 | rs2114962540 | 6 | : 124,962,747 | intron_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
36 | rs2114962513 | 6 | : 124,962,743 | intron_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, coding_sequence_variant | RNF217-AS1, RNF217 | Yes |
37 | rs2114962216 | 6 | : 124,962,711 | intron_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
38 | rs2114962156 | 6 | : 124,962,698 | intron_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
39 | rs2114962067 | 6 | : 124,962,683 | intron_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, coding_sequence_variant | RNF217-AS1, RNF217 | Yes |
40 | rs2114961815 | 6 | : 124,962,633 | intron_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, missense_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
41 | rs2114961782 | 6 | : 124,962,628 | intron_variant, non_coding_transcript_variant, genic_upstream_transcript_variant, synonymous_variant, coding_sequence_variant | RNF217-AS1, RNF217 | n/a |
42 | rs2114961321 | 6 | : 124,962,527 | intron_variant, 5_prime_UTR_variant, upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
43 | rs2114961222 | 6 | : 124,962,500 | intron_variant, 5_prime_UTR_variant, upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
44 | rs2114961187 | 6 | : 124,962,495 | intron_variant, 5_prime_UTR_variant, upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
45 | rs2114961147 | 6 | : 124,962,487 | intron_variant, 5_prime_UTR_variant, upstream_transcript_variant, non_coding_transcript_variant, genic_upstream_transcript_variant | RNF217-AS1, RNF217 | Yes |
46 | rs2114961007 | 6 | : 124,962,417 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | Yes |
47 | rs2114960838 | 6 | : 124,962,307 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | Yes |
48 | rs2114960716 | 6 | : 124,962,244 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | Yes |
49 | rs2114960700 | 6 | : 124,962,235 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | Yes |
50 | rs2114960694 | 6 | : 124,962,232 | upstream_transcript_variant, intron_variant, 2KB_upstream_variant | RNF217-AS1, RNF217 | Yes |
eQTL Data
1 - 38 of 38
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{ "section": "eqtl", "summary": "1 - 38 of 38"}
dbGaP Studies
# |
Disease |
Study Type |
Study Name |
Participants |
Platform |
---|---|---|---|---|---|
1 | Aging Neoplasms Arthritis Lung Diseases, Obstructive Dementia Heart Diseases Heart Failure Hypertension Myocardial Infarction Diabetes Mellitus Hypercholesterolemia Obesity Body Weight Mobility Limitation Pain Cholesterol Hemoglobin A, Glycosylated C-Reactive Protein Cystatin C Depression Alcohol Drinking Smoking Personality Life Style Cognition Demography Ethnic Groups Health Status Population Groups Housing Independent Living Socioeconomic Factors Career Mobility Educational Status Employment Family Characteristics Income Occupations Poverty Social Change Social Class Social Conditions Risk Factors Aging |
Longitudinal | Health and Retirement Study (HRS) | 15620 | Illumina: HumanOmni2.5 |
2 | Coronary Disease Hypertension Diabetes Mellitus Heart Failure Coronary Disease |
Longitudinal | CATHeterization GENetics (CATHGEN) | 3304 | |
3 | Population Genetics Type 2 Diabetes Mellitus Insulin Glucose Obesity Anthropometry Body Mass Index Bone Density Cholesterol, HDL Cholesterol, LDL Triglycerides Kidney Function Tests Uric Acid Gout Pancreatitis Macular Degeneration Hypertension Blood Pressure Menopause Menarche Alcohol Drinking Smoking Caffeine Red Blood Cell Count C Reactive Protein White Blood Cell Count Platelets Coronary Disease Myocardial Infarction Electrocardiography Asthma Neoplasms Population Genetics |
Cross-Sectional, Longitudinal, Nested Case-Control | Population Architecture using Genomics and Epidemiology (PAGE) | ||
4 | Pharmacogenetics Atrial Fibrillation Attention Deficit Disorder with Hyperactivity Cardiovascular Diseases Epilepsy Heart Failure Hypertension Malignant Hyperthermia Long QT Syndrome Atomoxetine Clopidogrel Methylphenidate Simvastatin Warfarin Hydroxymethylglutaryl-CoA Reductase Inhibitors Pharmacogenetics |
Cohort | eMERGE Network PGx Cohort | 9010 | Illumina: HiSeq 2000 Illumina: HiSeq 2500 |
5 | Hypercholesterolemia Asthma Arthritis, Rheumatoid Attention Deficit Disorder with Hyperactivity Bipolar Disorder Coronary Disease Depression Heart Failure Inflammatory Bowel Diseases Multiple Sclerosis Schizophrenia Stroke Hypercholesterolemia |
Cross-Sectional | eMERGE Clinical Center at Partners HealthCare | 4929 | Illumina: Infinium Multi-Ethnic Genotyping Array (MEGA) - Consortium Release .v1 |
6 | Aortic Aneurysm, Abdominal Body Mass Index Aortic Aneurysm, Abdominal |
Case-Control | Geisinger Health System - MyCode, eMERGE III Exome Chip | 9212 | Illumina: HumanExome-12 v1.1 BeadChip |
7 | Women's Health Adrenal Gland Neoplasms Angina Pectoris Angioplasty, Transluminal, Percutaneous Coronary Anus Neoplasms Appendiceal Neoplasms Arthritis, Rheumatoid Biliary Tract Neoplasms Bone Neoplasms Brain Neoplasms Breast Neoplasms Carotid Artery Diseases Cataract Central Nervous System Cysts Colorectal Neoplasms Coronary Artery Bypass Coronary Disease Death Diabetes Mellitus Endocrine Gland Neoplasms Esophageal Neoplasms Eye Neoplasms Fractures, Bone Gallbladder Diseases Glaucoma Heart Failure Hip Fractures Hodgkin Disease Humeral Fractures Hypertension Hysterectomy Intestinal Polyps Kidney Calculi Kidney Neoplasms Laryngeal Neoplasms Leukemia Liver Neoplasms Lung Neoplasms Lupus Erythematosus, Cutaneous Lymph Nodes Lymphoma, Non-Hodgkin Melanoma Meningeal Neoplasms Mouth Neoplasms Multiple Myeloma Myocardial Infarction Neoplasms, Connective and Soft Tissue Osteoporosis, Postmenopausal Palatal Neoplasms Pancreatic Neoplasms Paranasal Sinus Neoplasms Parotid Neoplasms Peripheral Nervous System Neoplasms Peripheral Vascular Diseases Radius Fractures Respiratory Tract Neoplasms Salivary Gland Neoplasms Spinal Cord Neoplasms Spinal Fractures Stomach Neoplasms Stroke Thyroid Neoplasms Tibial Fractures Tongue Neoplasms Ulna Fractures Ureteral Neoplasms Urethral Neoplasms Urinary Bladder Neoplasms Urogenital Neoplasms Uterine Cervical Neoplasms Uterine Neoplasms Women's Health |
Partial Factorial Randomized, Double-Blind, Placebo-Controlled, Cohort, Longitudinal | Women's Health Initiative | 143213 | |
8 | Women's Health Cardiovascular Diseases Myocardial Infarction Diabetes Mellitus, Type 2 Body Mass Index Stroke Women's Health |
Partial Factorial Randomized, Double-Blind, Placebo-Controlled, Cohort, Longitudinal, Exome Sequencing | NHLBI GO-ESP: Women's Health Initiative Exome Sequencing Project (WHI) - WHISP | 2150 | Illumina: Genome Analyzer IIX Illumina: HiSeq 2000 |
9 | Memory Adrenal Gland Neoplasms Angina Pectoris Angioplasty, Transluminal, Percutaneous Coronary Anus Neoplasms Appendiceal Neoplasms Arthritis, Rheumatoid Biliary Tract Neoplasms Bone Neoplasms Brain Neoplasms Breast Neoplasms Carotid Artery Diseases Cataract Central Nervous System Cysts Colorectal Neoplasms Coronary Artery Bypass Coronary Disease Diabetes Mellitus Endocrine Gland Neoplasms Esophageal Neoplasms Eye Neoplasms Fractures, Bone Gallbladder Diseases Glaucoma Heart Failure Hip Fractures Hodgkin Disease Humeral Fractures Hypertension Hysterectomy Intestinal Polyps Kidney Calculi Kidney Neoplasms Laryngeal Neoplasms Leukemia Liver Neoplasms Lung Neoplasms Lupus Erythematosus, Cutaneous Lymph Nodes Lymphoma, Non-Hodgkin Melanoma Meningeal Neoplasms Mouth Neoplasms Multiple Myeloma Myocardial Infarction Neoplasms, Connective and Soft Tissue Osteoporosis, Postmenopausal Palatal Neoplasms Pancreatic Neoplasms Paranasal Sinus Neoplasms Parotid Neoplasms Peripheral Nervous System Neoplasms Peripheral Vascular Diseases Radius Fractures Respiratory Tract Neoplasms Salivary Gland Neoplasms Spinal Cord Neoplasms Spinal Fractures Stomach Neoplasms Stroke Thyroid Neoplasms Tibial Fractures Tongue Neoplasms Ulna Fractures Ureteral Neoplasms Urethral Neoplasms Urinary Bladder Neoplasms Urogenital Neoplasms Uterine Cervical Neoplasms Uterine Neoplasms Memory |
Cohort | WHIMS+ GWAS: GWAS on Selected WHI Hormone Trial European Americans | 5740 | Illumina: HumanOmniExpress |
10 | Coronary Artery Disease Cholesterol Insulin Blood Glucose Type 2 Diabetes C-Reactive Protein Blood Pressure Aging Smoking Body Mass Index Coronary Artery Disease |
Case-Control | NHLBI's BA23 in WHI | 2129 | Illumina: Infinium HumanMethylation450 BeadChip Applied Biosystems: TaqMan OpenArrays |
11 | Women's Health Adrenal Gland Neoplasms Angina Pectoris Angioplasty, Transluminal, Percutaneous Coronary Anus Neoplasms Appendiceal Neoplasms Arthritis, Rheumatoid Biliary Tract Neoplasms Bone Neoplasms Brain Neoplasms Breast Neoplasms Carotid Artery Diseases Cataract Central Nervous System Cysts Colorectal Neoplasms Coronary Artery Bypass Coronary Disease Death Diabetes Mellitus Endocrine Gland Neoplasms Esophageal Neoplasms Eye Neoplasms Fractures, Bone Gallbladder Diseases Glaucoma Heart Failure Hip Fractures Hodgkin Disease Humeral Fractures Hypertension Hysterectomy Intestinal Polyps Kidney Calculi Kidney Neoplasms Laryngeal Neoplasms Leukemia Liver Neoplasms Lung Neoplasms Lupus Erythematosus, Cutaneous Lymph Nodes Lymphoma, Non-Hodgkin Melanoma Meningeal Neoplasms Mouth Neoplasms Multiple Myeloma Myocardial Infarction Neoplasms, Connective and Soft Tissue Osteoporosis, Postmenopausal Palatal Neoplasms Pancreatic Neoplasms Paranasal Sinus Neoplasms Parotid Neoplasms Peripheral Nervous System Neoplasms Peripheral Vascular Diseases Radius Fractures Respiratory Tract Neoplasms Salivary Gland Neoplasms Spinal Cord Neoplasms Spinal Fractures Stomach Neoplasms Stroke Thyroid Neoplasms Tibial Fractures Tongue Neoplasms Ulna Fractures Ureteral Neoplasms Urethral Neoplasms Urinary Bladder Neoplasms Urogenital Neoplasms Uterine Cervical Neoplasms Uterine Neoplasms Women's Health |
Cohort | WHI Long Life Study Phase III GWAS Data | 1446 | Illumina: HumanOmniExpressExome-8v1_A |