chr4:88742550:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr4:88,742,550-88,767,966
hg38 chr4:87,821,398-87,846,814 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 squamous cell carcinoma NA BeFree Detail
<0.001 Carcinoma, Transitional Cell NA BeFree Detail
<0.001 Cardiomyopathy, Dilated NA BeFree Detail
0.123 Cardiovascular Diseases NA BeFree,GAD,GWASCAT Detail
<0.001 celiac disease NA BeFree Detail
<0.001 cerebellar ataxia NA BeFree Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
<0.001 Charcot-Marie-Tooth disease NA BeFree Detail
<0.001 cholera NA BeFree Detail
<0.001 cholestasis NA BeFree Detail
<0.001 chondrosarcoma NA BeFree Detail
<0.001 Congenital chromosomal disease NA BeFree Detail
<0.001 Colonic Neoplasms NA BeFree Detail
0.004 colorectal carcinoma NA BeFree Detail
<0.001 Coronary Arteriosclerosis NA BeFree Detail
0.001 Coronary heart disease NA BeFree Detail
<0.001 cystinuria NA BeFree Detail
<0.001 Cyst NA BeFree Detail
<0.001 Cytomegalovirus Infections NA BeFree Detail
<0.001 Presenile dementia NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 Diabetic Nephropathy NA BeFree Detail
<0.001 diarrhea NA BeFree Detail
<0.001 echinococcosis NA BeFree Detail
<0.001 Fatigue NA BeFree Detail
<0.001 chronic fatigue syndrome NA BeFree Detail
<0.001 fragile X syndrome NA BeFree Detail
<0.001 Gastrointestinal Diseases NA BeFree Detail
<0.001 giardiasis NA BeFree Detail
0.001 glioblastoma NA BeFree Detail
0.001 Glioma NA BeFree Detail
<0.001 Gonadal Dysgenesis, Mixed NA BeFree Detail
<0.001 Graves Disease NA BeFree Detail
<0.001 hand, foot and mouth disease NA BeFree Detail
<0.001 cardiac arrest NA BeFree Detail
<0.001 Heart failure NA BeFree Detail
<0.001 congestive heart failure NA BeFree Detail
<0.001 hemangioma NA BeFree Detail
<0.001 hemangiopericytoma NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
0.003 hepatitis B NA BeFree Detail
0.001 hepatitis C NA BeFree Detail
0.002 HIV Infections NA BeFree Detail
<0.001 Huntington disease NA BeFree Detail
<0.001 hydronephrosis NA BeFree Detail
<0.001 Hydrops fetalis NA BeFree Detail
<0.001 Hypercholesterolemia NA BeFree Detail
0.001 Hypertensive disease NA BeFree Detail
<0.001 hypothyroidism NA BeFree Detail
<0.001 Angioimmunoblastic Lymphadenopathy NA BeFree Detail
<0.001 insulinoma NA BeFree Detail
<0.001 Creutzfeldt-Jakob disease NA BeFree Detail
0.001 Kidney Failure, Chronic NA BeFree Detail
<0.001 Kidney Neoplasm NA BeFree Detail
<0.001 Klinefelter syndrome NA BeFree Detail
<0.001 Fibroid Tumor NA BeFree Detail
<0.001 leiomyosarcoma NA BeFree Detail
<0.001 tuberculoid leprosy NA BeFree Detail
<0.001 leukemia NA BeFree Detail
0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 lymphoid leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
0.002 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 Leukemia, Myeloid, Chronic-Phase NA BeFree Detail
<0.001 acute promyelocytic leukemia NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
<0.001 Lichen Sclerosus et Atrophicus NA BeFree Detail
<0.001 liposarcoma NA BeFree Detail
0.001 liver cirrhosis NA BeFree Detail
<0.001 Liver diseases NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
<0.001 Lupus Erythematosus, Systemic NA BeFree Detail
0.002 lymphoma NA BeFree Detail
<0.001 Lymphoma, Follicular NA BeFree Detail
0.002 Malignant neoplasm of stomach NA BeFree Detail
<0.001 medulloblastoma NA BeFree Detail
<0.001 melanoma NA BeFree Detail
<0.001 premature menopause NA BeFree Detail
<0.001 Mental Retardation NA BeFree Detail
<0.001 Mixed Salivary Gland Tumor NA BeFree Detail
<0.001 multiple sclerosis NA BeFree Detail
<0.001 muscular dystrophy NA BeFree Detail
<0.001 mycosis fungoides NA BeFree Detail
<0.001 Myelodysplasia NA BeFree Detail
<0.001 myelofibrosis NA BeFree Detail
<0.001 Myeloproliferative disease NA BeFree Detail
0.002 myocardial infarction NA BeFree Detail
<0.001 Nasal Polyps NA BeFree Detail
<0.001 Nausea NA BeFree Detail
0.001 Neoplasm Metastasis NA BeFree Detail
<0.001 nephroblastoma NA BeFree Detail
<0.001 neuroblastoma NA BeFree Detail
<0.001 neurofibromatosis 1 NA BeFree Detail
<0.001 Numbness NA BeFree Detail
<0.001 Degenerative polyarthritis NA BeFree Detail
<0.001 osteomalacia NA BeFree Detail
<0.001 osteoporosis NA BeFree Detail
<0.001 osteosarcoma NA BeFree Detail
0.002 ovarian carcinoma NA BeFree Detail
<0.001 paraganglioma NA BeFree Detail
<0.001 pneumonia NA BeFree Detail
<0.001 Adenomatous Polyposis Coli NA BeFree Detail
<0.001 polyps NA BeFree Detail
<0.001 Prader-Willi syndrome NA BeFree Detail
<0.001 Preleukemia NA BeFree Detail
<0.001 Protein Deficiency NA BeFree Detail
<0.001 pterygium Of 45 pterygia samples with acceptable DNA quality, 29 (64.4%) were positive for... BeFree 25043991 Detail
<0.001 pulmonary embolism NA BeFree Detail
<0.001 kidney failure NA BeFree Detail
<0.001 Respiratory Tract Infections NA BeFree Detail
<0.001 rheumatic fever NA BeFree Detail
<0.001 schizophrenia NA BeFree Detail
<0.001 Sezary syndrome NA BeFree Detail
<0.001 Sleep Apnea Syndromes NA BeFree Detail
<0.001 smallpox NA BeFree Detail
<0.001 Snoring NA BeFree Detail
<0.001 Spastic paraplegia NA BeFree Detail
<0.001 ankylosing spondylitis NA BeFree Detail
0.001 Cerebrovascular accident NA BeFree Detail
<0.001 thalassemia NA BeFree Detail
<0.001 Thrombasthenia NA BeFree Detail
<0.001 Thrombocythemia, Essential NA BeFree Detail
<0.001 Thromboembolism NA BeFree Detail
<0.001 Tremor NA BeFree Detail
<0.001 Trisomy NA BeFree Detail
<0.001 tuberculosis NA BeFree Detail
<0.001 tuberous sclerosis NA BeFree Detail
0.002 Turner syndrome NA BeFree Detail
<0.001 Unipolar Depression NA BeFree Detail
<0.001 Uterine Fibroids NA BeFree Detail
<0.001 Vomiting NA BeFree Detail
<0.001 xeroderma pigmentosum NA BeFree Detail
<0.001 yellow fever NA BeFree Detail
<0.001 T-Cell Lymphoma NA BeFree Detail
<0.001 motor neuron disease NA BeFree Detail
<0.001 Ovarian Failure, Premature NA BeFree Detail
<0.001 Neurofibrillary degeneration (morphologic abnormality) NA BeFree Detail
<0.001 Arthritis, Reactive NA BeFree Detail
<0.001 essential hypertension NA BeFree Detail
<0.001 acute leukemia NA BeFree Detail
<0.001 Chronic gastritis NA BeFree Detail
<0.001 congenital heart block NA BeFree Detail
<0.001 Deep Vein Thrombosis NA BeFree Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
<0.001 Adenocarcinoma of rectum NA BeFree Detail
<0.001 Myocardial Ischemia NA BeFree Detail
<0.001 Arterial thrombosis NA BeFree Detail
<0.001 Idiopathic pulmonary hypertension NA BeFree Detail
<0.001 Secondary malignant neoplasm of bone NA BeFree Detail
<0.001 Hearing Loss, Mixed Conductive-Sensorineural NA BeFree Detail
0.002 acute myocardial infarction NA BeFree Detail
<0.001 Hypertrophy of clitoris NA BeFree Detail
<0.001 Malnutrition NA BeFree Detail
<0.001 citrullinemia NA BeFree Detail
<0.001 Van der Woude syndrome NA BeFree Detail
<0.001 follicular adenoma NA BeFree Detail
<0.001 Lichen Planus, Oral NA BeFree Detail
<0.001 Ki-1+ Anaplastic Large Cell Lymphoma NA BeFree Detail
<0.001 Lymphomatoid Papulosis NA BeFree Detail
<0.001 Lymphangioma, Cystic NA BeFree Detail
<0.001 Adenoma, Villous NA BeFree Detail
<0.001 Adenomatous Polyps NA BeFree Detail
<0.001 adrenocortical carcinoma NA BeFree Detail
<0.001 Carcinoma, Endometrioid NA BeFree Detail
<0.001 Cystadenocarcinoma, Serous NA BeFree Detail
<0.001 ganglioglioma NA BeFree Detail
<0.001 Sex cord-stromal tumor NA BeFree Detail
<0.001 childhood rhabdomyosarcoma NA BeFree Detail
<0.001 Secondary physiologic amenorrhea NA BeFree Detail
<0.001 Dermatitis acneiform NA BeFree Detail
<0.001 Neurologic Symptoms NA BeFree Detail
<0.001 congenital diaphragmatic hernia NA BeFree Detail
<0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Gastrointestinal Stromal Tumors NA BeFree Detail
<0.001 hypokalemic periodic paralysis NA BeFree Detail
<0.001 Harlequin Fetus NA BeFree Detail
0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Parkinsonian Disorders NA BeFree Detail
<0.001 Isochromosomes NA BeFree Detail
<0.001 Mucosa-Associated Lymphoid Tissue Lymphoma NA BeFree Detail
<0.001 protein S deficiency NA BeFree Detail
<0.001 Tumoral calcinosis NA BeFree Detail
<0.001 Cohen syndrome NA BeFree Detail
<0.001 essential tremor NA BeFree Detail
<0.001 Pendular Nystagmus NA BeFree Detail
<0.001 hypogonadotropic hypogonadism NA BeFree Detail
<0.001 Subclinical hypothyroidism NA BeFree Detail
<0.001 Coinfection NA BeFree Detail
<0.001 Cancer of Head and Neck NA BeFree Detail
<0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 laryngeal squamous cell carcinoma NA BeFree Detail
<0.001 Primary central nervous system lymphoma NA BeFree Detail
<0.001 HIV-associated Hodgkin's lymphoma NA BeFree Detail
<0.001 Iron Overload NA BeFree Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 High-Grade Squamous Intraepithelial Lesions NA BeFree Detail
<0.001 pilocytic astrocytoma NA BeFree Detail
<0.001 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse NA BeFree Detail
<0.001 Aphasia, Progressive NA BeFree Detail
<0.001 X-linked retinitis pigmentosa NA BeFree Detail
<0.001 autosomal dominant hypophosphatemic rickets NA BeFree Detail
<0.001 Naegeli syndrome NA BeFree Detail
<0.001 MRSA - Methicillin resistant Staphylococcus aureus infection NA BeFree Detail
<0.001 Human papilloma virus infection NA BeFree Detail
<0.001 Congenital phimosis NA BeFree Detail
<0.001 malignant mesothelioma NA BeFree Detail
<0.001 Multiple malignancy NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Influenza-like symptoms NA BeFree Detail
<0.001 nephrolithiasis NA BeFree Detail
<0.001 thrombophilia NA BeFree Detail
<0.001 Primary vesicoureteric reflux NA BeFree Detail
<0.001 Acquired phimosis NA BeFree Detail
<0.001 Developmental delay (disorder) NA BeFree Detail
<0.001 Sinus Node Dysfunction (disorder) NA BeFree Detail
<0.001 Unilateral Cryptorchidism NA BeFree Detail
<0.001 XX males NA BeFree Detail
<0.001 neuropathy NA BeFree Detail
<0.001 Nephrotic range proteinuria NA BeFree Detail
0.001 endometrial carcinoma NA BeFree Detail
<0.001 dementia NA BeFree Detail
<0.001 Sleep Apnea, Obstructive NA BeFree Detail
<0.001 Influenza-like illness NA BeFree Detail
<0.001 Hepatitis C, Chronic NA BeFree Detail
<0.001 Thyroid carcinoma NA BeFree Detail
<0.001 Oropharyngeal disorders NA BeFree Detail
<0.001 Osteosarcoma of bone NA BeFree Detail
<0.001 monocytic leukemia NA BeFree Detail
0.001 prostate carcinoma NA BeFree Detail
<0.001 Bilateral Malignant Neoplasm NA BeFree Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
0.009 breast carcinoma NA BeFree Detail
<0.001 Thrombocythemia, Essential The modulation of JAK2 V617F allele burden dynamics was prospectively analysed i... BeFree 21219298 Detail
0.001 Carcinoma of lung NA BeFree Detail
0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
0.002 stomach carcinoma NA BeFree Detail
0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Poorly differentiated carcinoma NA BeFree Detail
<0.001 Idiopathic Inflammatory Myopathies NA BeFree Detail
<0.001 adult acute lymphocytic leukemia NA BeFree Detail
<0.001 Nemaline Myopathy, Autosomal Recessive NA BeFree Detail
<0.001 lymphangioleiomyomatosis NA BeFree Detail
<0.001 Giardia infections NA BeFree Detail
<0.001 Cardiomyopathies NA BeFree Detail
<0.001 precancerous lesions NA BeFree Detail
<0.001 Ischemic stroke NA BeFree Detail
<0.001 alveolar echinococcosis NA BeFree Detail
<0.001 Spondylarthropathies NA BeFree Detail
<0.001 Contralateral breast cancer NA BeFree Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 Ductal Carcinoma NA BeFree Detail
<0.001 sarcoma NA BeFree Detail
<0.001 attention deficit hyperactivity disorder NA BeFree Detail
<0.001 major depressive disorder NA BeFree Detail
<0.001 First myocardial infarction NA BeFree Detail
0.001 Oncogenic osteomalacia NA BeFree Detail
<0.001 Avellino corneal dystrophy NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
<0.001 Low Grade Squamous Intraepithelial Neoplasia NA BeFree Detail
<0.001 M5b Acute differentiated monocytic leukemia NA BeFree Detail
<0.001 Refractory anemia with excess blasts I NA BeFree Detail
<0.001 Anaplastic Large Cell Lymphoma, ALK-Positive NA BeFree Detail
<0.001 Bilateral Carcinoma NA BeFree Detail
0.001 Hereditary Nonpolyposis Colorectal Cancer NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma Of 45 GNAS wild-type IPMNs, 10 (43%) of 23 gastric type IPMNs had distinct PDAC,... BeFree 25479586 Detail
<0.001 Sporadic Breast Carcinoma NA BeFree Detail
<0.001 alpha^+^ Thalassemia NA BeFree Detail
0.001 Mammary Neoplasms NA BeFree Detail
0.003 colorectal cancer NA BeFree Detail
<0.001 Ductal Breast Carcinoma NA BeFree Detail
<0.001 Limbal stem cell deficiency NA BeFree Detail
<0.001 Leprosy, Paucibacillary NA BeFree Detail
<0.001 Immune Reconstitution Inflammatory Syndrome NA BeFree Detail
<0.001 Glioblastoma multiforme NA BeFree Detail
<0.001 Cirrhosis NA BeFree Detail
<0.001 Benign Prostatic Hyperplasia NA BeFree Detail
<0.001 Non-Neoplastic Disorder NA BeFree Detail
<0.001 NEUROTICISM NA BeFree Detail
<0.001 lateral meningocele syndrome NA BeFree Detail
<0.001 Amyotrophy, monomelic NA BeFree Detail
<0.001 uterine corpus cancer NA BeFree Detail
<0.001 coronary artery disease NA BeFree Detail
<0.001 Angioma NA BeFree Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
0.004 liver carcinoma NA BeFree Detail
<0.001 Chronic kidney disease stage 5 NA BeFree Detail
<0.001 Hereditary protein S deficiency NA BeFree Detail
<0.001 Immunoglobulin a deficiency 1 NA BeFree Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
<0.001 Refractory anemia, without ringed sideroblasts, without excess blasts NA BeFree Detail
<0.001 Idiopathic pulmonary arterial hypertension NA BeFree Detail
<0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
<0.001 Parkinson Disease, Familial, Type 1 NA BeFree Detail
<0.001 Juvenile arthritis NA BeFree Detail
<0.001 Vitamin D-Resistant Rickets, X-Linked These data suggest that both MEPE and OPN are involved in impaired tooth mineral... BeFree 25158186 Detail
<0.001 Triple Negative Breast Neoplasms NA BeFree Detail
<0.001 Breast cancer, lobular NA BeFree Detail
<0.001 Symptomatic human immunodeficiency virus infection NA BeFree Detail
<0.001 juvenile rheumatoid arthritis NA BeFree Detail
<0.001 Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia NA BeFree Detail
0.120 Adult Rickets NA CTD_human Detail
0.002 adenocarcinoma NA BeFree Detail
<0.001 adenoma NA BeFree Detail
<0.001 Adrenal Gland Neoplasms NA BeFree Detail
<0.001 Primary myelofibrosis NA BeFree Detail
<0.001 alpha-Thalassemia NA BeFree Detail
<0.001 Alzheimer's disease NA BeFree Detail
<0.001 amenorrhea NA BeFree Detail
<0.001 Refractory anemias NA BeFree Detail
<0.001 Anemia, Sickle Cell NA BeFree Detail
<0.001 Aneurysm NA BeFree Detail
<0.001 anorexia nervosa NA BeFree Detail
0.001 Arterial Occlusive Diseases NA BeFree Detail
<0.001 arteriosclerosis NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
<0.001 Astrocytoma NA BeFree Detail
<0.001 ataxia telangiectasia NA BeFree Detail
<0.001 atherosclerosis NA BeFree Detail
<0.001 autistic disorder NA BeFree Detail
<0.001 biliary atresia NA BeFree Detail
<0.001 bipolar disorder NA BeFree Detail
0.001 Malignant neoplasm of urinary bladder NA BeFree Detail
<0.001 Blast Phase NA BeFree Detail
<0.001 Brain Neoplasms NA BeFree Detail
0.010 Malignant neoplasm of breast NA BeFree Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
<0.001 Rectal Carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
<0.001 Noninfiltrating Intraductal Carcinoma NA BeFree Detail
0.001 Non-small cell lung carcinoma NA BeFree Detail
0.001 renal cell carcinoma NA BeFree Detail
Annotation

Annotations

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Of 45 pterygia samples with acceptable DNA quality, 29 (64.4%) were positive for HPV DNA, whereas al... DisGeNET Detail
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The modulation of JAK2 V617F allele burden dynamics was prospectively analysed in 47 patients (26 po... DisGeNET Detail
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Of 45 GNAS wild-type IPMNs, 10 (43%) of 23 gastric type IPMNs had distinct PDAC, whereas only 2 (9%)... DisGeNET Detail
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NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These data suggest that both MEPE and OPN are involved in impaired tooth mineralization associated w... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386626619 dbSNP
Genome
hg19
Position
chr4:88,742,550-88,767,966
Variant Type
snv
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