chr19:19623655:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:19,734,464-19,739,739 |
| hg38 | chr19:19,623,655-19,628,930 |
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 |
|---|---|---|---|---|---|
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| 0.003 | Colonic Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | colorectal carcinoma | Expression of the calcium-sensing receptor (CaSR), a calcium-binding G protein-c... | BeFree | 25701758 | Detail |
| 0.001 | cryptorchidism | NA | BeFree | Detail | |
| <0.001 | Cytomegalovirus Infections | Rationally designed chemokine-based toxin targeting the viral G protein-coupled ... | BeFree | 26080445 | Detail |
| 0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | Drug abuse | NA | BeFree | Detail | |
| <0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | Fatty Liver | Analysis of liver transcript levels of 20 genes residing at the SUGP1/NCAN locus... | BeFree | 25246029 | Detail |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | goiter | NA | BeFree | Detail | |
| 0.002 | Heart failure | Down-regulation and desensitization of β-adrenergic receptors (β-AR) caused by G... | BeFree | 24702056 | Detail |
| 0.002 | congestive heart failure | Down-regulation and desensitization of β-adrenergic receptors (β-AR) caused by G... | BeFree | 24702056 | Detail |
| 0.001 | Herpes NOS | NA | BeFree | Detail | |
| 0.002 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Hereditary Sensory Autonomic Neuropathy, Type 1 | NA | BeFree | Detail | |
| 0.001 | Hypertensive disease | These include the contribution of variants of the regulator of G protein signali... | BeFree | 25150869 | Detail |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Acute Erythroblastic Leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | This indicates that G protein-coupled receptor signaling contributes to AML path... | BeFree | 26220344 | Detail |
| <0.001 | Lung diseases | LPAR6, a G protein coupled receptor, associated with lung disease severity (fals... | BeFree | 25640674 | Detail |
| <0.001 | Lung Neoplasms | NA | BeFree | Detail | |
| <0.001 | essential hypertension | Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP... | BeFree | 12446468 | Detail |
| 0.002 | melanoma | LPA1-KO but not LPA2-KO mice also showed diminished melanoma-derived lung metast... | BeFree | 25158955 | Detail |
| <0.001 | Mesothelioma | The role of PAR1 in mesothelioma progression is just emerging and our observatio... | BeFree | 25364818 | Detail |
| <0.001 | Metabolic Diseases | GPR119, a G protein-coupled receptor highly expressed in pancreatic β cells and ... | BeFree | 25246581 | Detail |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | Myotonic dystrophy | NA | BeFree | Detail | |
| 0.003 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.001 | obesity | The G protein-coupled receptor GPR55 has been proposed as a new cannabinoid rece... | BeFree | 25970609 | Detail |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| 0.002 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | Parathyroid Diseases | NA | BeFree | Detail | |
| 0.002 | Pituitary Diseases | NA | BeFree | Detail | |
| <0.001 | pneumonia | NA | BeFree | Detail | |
| <0.001 | polyps | NA | BeFree | Detail | |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Pruritus | NA | BeFree | Detail | |
| <0.001 | pulmonary fibrosis | NA | BeFree | Detail | |
| <0.001 | retinitis pigmentosa | NA | BeFree | Detail | |
| <0.001 | retinoblastoma | NA | BeFree | Detail | |
| 0.002 | Kaposi sarcoma | NA | BeFree | Detail | |
| <0.001 | schizoaffective disorder | NA | BeFree | Detail | |
| <0.001 | schizophrenia | NA | BeFree | Detail | |
| <0.001 | Albinism, Ocular | NA | BeFree | Detail | |
| <0.001 | severe combined immunodeficiency | NA | BeFree | Detail | |
| <0.001 | essential hypertension | NA | BeFree | Detail | |
| <0.001 | Left Ventricular Hypertrophy | NA | BeFree | Detail | |
| <0.001 | allergic asthma | NA | BeFree | Detail | |
| <0.001 | nephrogenic diabetes insipidus | NA | BeFree | Detail | |
| <0.001 | Kallmann syndrome | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | uveal melanoma | NA | BeFree | Detail | |
| <0.001 | Malignant ascites | NA | BeFree | Detail | |
| <0.001 | acrodysostosis | NA | BeFree | Detail | |
| <0.001 | Inflammatory pain | NA | BeFree | Detail | |
| 0.001 | Taste bitter | Abscisic Acid Acts as a Blocker of the Bitter Taste G Protein-Coupled Receptor T... | BeFree | 25844797 | Detail |
| <0.001 | Paroxysmal atrial fibrillation | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Dyslipidemias | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | GPRC5A is a G-protein-coupled receptor expressed in lung tissue but repressed in... | BeFree | 25744720 | Detail |
| <0.001 | Renal sclerosis with hypertension | NA | BeFree | Detail | |
| <0.001 | Cholestasis of pregnancy | NA | BeFree | Detail | |
| <0.001 | hypogonadotropic hypogonadism | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Autosomal dominant retinitis pigmentosa | NA | BeFree | Detail | |
| <0.001 | Hypoparathyroidism - autosomal dominant | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Pulmonary Cystic Fibrosis | NA | BeFree | Detail | |
| <0.001 | Congenital Myotonic Dystrophy | NA | BeFree | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| <0.001 | Clumsiness - motor delay | NA | BeFree | Detail | |
| <0.001 | Recurrent tumor | NA | BeFree | Detail | |
| 0.004 | Carcinogenesis | Platelet-activating factor receptor (PAFR), a G-protein-coupled receptor, has be... | BeFree | 26359459 | Detail |
| <0.001 | genetic hypertension | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| 0.002 | prostate carcinoma | NA | BeFree | Detail | |
| 0.004 | breast carcinoma | The G protein-coupled receptor, GPR30, which is a third estrogen receptor, has b... | BeFree | 25531203 | Detail |
| <0.001 | Carcinoma of lung | GPRC5A is a G-protein-coupled receptor expressed in lung tissue but repressed in... | BeFree | 25744720 | Detail |
| 0.002 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | Taste sweet | NA | BeFree | Detail | |
| 0.006 | ovarian neoplasm | NA | BeFree,LHGDN | Detail | |
| <0.001 | blastoma | NA | BeFree | Detail | |
| <0.001 | Invasive Ductal Breast Carcinoma | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| 0.003 | sarcoma | NA | BeFree | Detail | |
| <0.001 | attention deficit hyperactivity disorder | NA | BeFree | Detail | |
| <0.001 | Primary Effusion Lymphoma | NA | BeFree | Detail | |
| <0.001 | differentiated thyroid gland carcinoma | NA | BeFree | Detail | |
| 0.005 | Mammary Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Cancer Cell Growth | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | Expression of the calcium-sensing receptor (CaSR), a calcium-binding G protein-c... | BeFree | 25701758 | Detail |
| <0.001 | Non-Malignant Ascites Adverse Event | NA | BeFree | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Total Hypotrichosis, Mari type | NA | BeFree | Detail | |
| <0.001 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| <0.001 | Anxiety Disorders | Accumulating evidence from mouse models points to the G protein-coupled receptor... | BeFree | 25740197 | Detail |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| 0.002 | asthma | NA | BeFree | Detail | |
| <0.001 | Autoimmune Diseases | Sphingosine 1-phosphate receptor 1 (S1P₁), an abundantly-expressed G protein-cou... | BeFree | 25293589 | Detail |
| <0.001 | bipolar disorder | NA | BeFree | Detail | |
| 0.004 | Malignant neoplasm of breast | The G protein-coupled receptor, GPR30, which is a third estrogen receptor, has b... | BeFree | 25531203 | Detail |
| <0.001 | cannabis dependence | NA | BeFree | Detail | |
| 0.002 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of skin | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of the calcium-sensing receptor (CaSR), a calcium-binding G protein-coupled receptor is d... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Rationally designed chemokine-based toxin targeting the viral G protein-coupled receptor US28 potent... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Analysis of liver transcript levels of 20 genes residing at the SUGP1/NCAN locus identified a 1.6-fo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Down-regulation and desensitization of β-adrenergic receptors (β-AR) caused by G-protein-coupled rec... | DisGeNET | Detail |
| Down-regulation and desensitization of β-adrenergic receptors (β-AR) caused by G-protein-coupled rec... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These include the contribution of variants of the regulator of G protein signaling (RGS) protein to ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This indicates that G protein-coupled receptor signaling contributes to AML pathogenesis. | DisGeNET | Detail |
| LPAR6, a G protein coupled receptor, associated with lung disease severity (false discovery rate q v... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr... | DisGeNET | Detail |
| LPA1-KO but not LPA2-KO mice also showed diminished melanoma-derived lung metastasis, suggesting tha... | DisGeNET | Detail |
| The role of PAR1 in mesothelioma progression is just emerging and our observations can promote furth... | DisGeNET | Detail |
| GPR119, a G protein-coupled receptor highly expressed in pancreatic β cells and intestinal L cells, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The G protein-coupled receptor GPR55 has been proposed as a new cannabinoid receptor associated with... | 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 |
| Abscisic Acid Acts as a Blocker of the Bitter Taste G Protein-Coupled Receptor T2R4. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| GPRC5A is a G-protein-coupled receptor expressed in lung tissue but repressed in most human lung can... | 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 |
| Platelet-activating factor receptor (PAFR), a G-protein-coupled receptor, has been implicated in tum... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The G protein-coupled receptor, GPR30, which is a third estrogen receptor, has been shown to mediate... | DisGeNET | Detail |
| GPRC5A is a G-protein-coupled receptor expressed in lung tissue but repressed in most human lung can... | 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 |
| Expression of the calcium-sensing receptor (CaSR), a calcium-binding G protein-coupled receptor is d... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Accumulating evidence from mouse models points to the G protein-coupled receptor RGS2 (regulator of ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sphingosine 1-phosphate receptor 1 (S1P₁), an abundantly-expressed G protein-coupled receptor which ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The G protein-coupled receptor, GPR30, which is a third estrogen receptor, has been shown to mediate... | 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
- rs386511346 dbSNP
- Genome
- hg38
- Position
- chr19:19,623,655-19,628,930
- Variant Type
- snv
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