chr15:51500254:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr15:51,500,254-51,630,793
hg38 chr15:51,208,057-51,338,596 

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
0.002 hypertrophic cardiomyopathy NA GAD Detail
0.003 Cardiovascular Diseases NA BeFree,GAD Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
<0.001 cholera NA BeFree Detail
0.004 choriocarcinoma NA BeFree,LHGDN Detail
<0.001 Coenuriasis NA BeFree Detail
<0.001 colorectal carcinoma NA BeFree Detail
0.002 Connective Tissue Diseases NA GAD Detail
0.003 Coronary Arteriosclerosis NA BeFree,GAD Detail
<0.001 cryptorchidism NA BeFree Detail
0.080 Diabetes Mellitus, Experimental NA RGD Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.080 Diabetic Nephropathy NA RGD Detail
<0.001 Down syndrome NA BeFree Detail
0.005 Endocrine System Diseases NA GAD Detail
0.042 Endometrial Neoplasms NA BeFree,GAD,LHGDN Detail
0.240 endometriosis In the present study, we investigated the pharmacological effects of DNG through... BeFree,CTD_human,GAD,LHGDN,RGD 25533385 Detail
0.240 endometriosis Down-regulation of the CYP19A1 gene in cumulus cells of infertile women with end... BeFree,CTD_human,GAD,LHGDN,RGD 25773531 Detail
0.120 Esophageal Neoplasms NA CTD_human Detail
0.033 breast carcinoma We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.120 Fatty Liver NA CTD_human Detail
0.002 Fetal Diseases NA GAD Detail
<0.001 breast fibrocystic disease NA BeFree Detail
0.114 Malignant neoplasm of breast We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.120 Fibrosis NA CTD_human Detail
0.002 Pathological fracture NA GAD Detail
<0.001 Froehlich's Syndrome NA BeFree Detail
<0.001 Psychosexual identity disorder NA BeFree Detail
0.003 glioblastoma NA LHGDN Detail
<0.001 Glioma All glioma cell lines included here expressed CYP19A1 and letrozole exerted cons... BeFree 25695958 Detail
<0.001 Graves Disease NA BeFree Detail
0.008 gynecomastia NA BeFree,GAD,LHGDN Detail
<0.001 hepatitis NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
<0.001 Hernia, Inguinal NA BeFree Detail
0.002 Hyperplasia NA GAD Detail
0.088 Hypertensive disease NA BeFree,GAD,LHGDN,RGD Detail
0.120 hypogonadism NA BeFree,CTD_human Detail
0.120 hypopituitarism NA CTD_human Detail
0.080 hypothyroidism NA RGD Detail
0.002 infertility NA GAD Detail
0.125 Female infertility NA CTD_human,GAD Detail
0.005 male infertility NA BeFree,GAD,LHGDN Detail
0.007 Inflammation NA GAD,LHGDN Detail
0.002 Insulin resistance NA GAD Detail
<0.001 Speech and language disorder NA BeFree Detail
0.009 Fibroid Tumor NA BeFree,GAD,LHGDN Detail
<0.001 Leydig cell tumor NA BeFree Detail
0.002 liver cirrhosis NA GAD Detail
<0.001 Liver neoplasms NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.006 Lung Neoplasms NA BeFree,GAD,LHGDN Detail
0.003 Lupus Erythematosus, Systemic NA BeFree,GAD Detail
0.002 Lymphoma, Non-Hodgkin NA GAD Detail
0.002 Mycetoma NA GAD Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
<0.001 premature menopause NA BeFree Detail
0.002 Musculoskeletal Diseases NA GAD Detail
0.004 Neoplasm Metastasis NA BeFree,LHGDN Detail
<0.001 Nodule Both Esr1 and CYP19A1 overexpressing mice responded to letrozole with reduced hy... BeFree 25421723 Detail
0.016 obesity NA BeFree,GAD Detail
0.002 Obesity, Morbid NA GAD Detail
0.080 obsessive-compulsive disorder NA MGD Detail
0.006 Degenerative polyarthritis NA BeFree,GAD,LHGDN Detail
0.130 osteoporosis NA BeFree,CTD_human,GAD,LHGDN Detail
0.009 Osteoporosis, Postmenopausal NA GAD Detail
<0.001 ovarian carcinoma NA BeFree Detail
0.123 Ovarian Diseases NA BeFree,CTD_human Detail
<0.001 Pain In the present study, we investigated the pharmacological effects of DNG through... BeFree 25533385 Detail
0.002 Parkinson disease NA GAD Detail
0.003 Pelvic Pain NA LHGDN Detail
0.120 Peripheral neuropathy NA CTD_human Detail
<0.001 Pituitary Diseases NA BeFree Detail
0.080 placental insufficiency NA RGD Detail
0.228 polycystic ovary syndrome NA BeFree,CTD_human,GAD,LHGDN,RGD Detail
0.003 polyps NA LHGDN Detail
0.002 Precancerous Conditions NA GAD Detail
0.002 Pregnancy Complications, Hematologic NA GAD Detail
0.133 Prostatic Neoplasms NA CTD_human,GAD,LHGDN Detail
0.080 protein-energy malnutrition NA RGD Detail
0.002 Delayed puberty NA GAD Detail
0.005 Precocious Puberty NA GAD Detail
0.080 Reperfusion Injury NA RGD Detail
0.002 Dermatologic disorders NA GAD Detail
0.002 Stomach Neoplasms NA GAD Detail
0.001 Thyroid Neoplasm NA BeFree Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 Transsexualism Association study of ERβ, AR, and CYP19A1 genes and MtF transsexualism. BeFree 25124466 Detail
<0.001 Turner syndrome NA BeFree Detail
0.003 Uterine Diseases NA LHGDN Detail
0.001 Uterine Fibroids NA BeFree Detail
0.002 Uterine Neoplasms NA GAD Detail
<0.001 Virilism NA BeFree Detail
0.003 ovarian hyperstimulation syndrome NA BeFree,GAD Detail
0.002 Peripheral Vascular Diseases NA GAD Detail
0.120 gestational diabetes NA CTD_human Detail
0.006 Ovarian Failure, Premature NA BeFree,GAD Detail
<0.001 Depressive Symptoms NA BeFree Detail
0.002 Left Ventricular Hypertrophy NA GAD Detail
0.003 Migraine Disorders NA BeFree,GAD Detail
0.007 Premature Birth NA GAD Detail
<0.001 Secondary malignant neoplasm of bone NA BeFree Detail
<0.001 Hyperestrogenism NA BeFree Detail
<0.001 Uterine Polyp NA BeFree Detail
<0.001 Idiopathic osteoporosis NA BeFree Detail
<0.001 Anaplastic carcinoma NA BeFree Detail
<0.001 Undifferentiated carcinoma NA BeFree Detail
0.003 hyperandrogenism NA BeFree,GAD Detail
0.003 endometrial stromal sarcoma NA BeFree,LHGDN Detail
<0.001 adrenal cortical adenoma NA BeFree Detail
0.004 adrenocortical carcinoma NA BeFree,LHGDN Detail
<0.001 Malignant neoplasm of female breast NA BeFree Detail
<0.001 Alcohol withdrawal syndrome NA BeFree Detail
<0.001 Carcinoma of male breast NA BeFree Detail
0.003 Female Pseudohermaphroditism NA BeFree,GAD Detail
0.003 Anaplastic thyroid carcinoma In the s.c. tumor model, both of the anaplastic thyroid carcinoma cell lines (AR... BeFree 25735362 Detail
0.120 Sexual Infantilism NA BeFree,CTD_human Detail
0.011 Malignant neoplasm of lung NA BeFree,GAD Detail
0.003 Disease Progression NA LHGDN Detail
<0.001 Malignant neoplasm of male breast NA BeFree Detail
<0.001 Endometrioma NA BeFree Detail
<0.001 Stage III Breast Cancer AJCC v6 The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and oper... BeFree 25793413 Detail
<0.001 Carcinoma breast stage IV NA BeFree Detail
<0.001 Adenocarcinoma Of Esophagus NA BeFree Detail
<0.001 bilateral breast cancer NA BeFree Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 Leydig cell tumor, benign NA BeFree Detail
<0.001 Impaired cognition NA BeFree Detail
<0.001 Idiopathic hirsutism To investigate the mRNA expression of aromatase enzyme and the other enzymes hav... BeFree 26194504 Detail
<0.001 Precocious pubarche NA BeFree Detail
<0.001 Precocious Puberty, Central We evaluated the frequency of allelic variants of the CYP19A1 exons and the tetr... BeFree 24612204 Detail
<0.001 Idiopathic central precocious puberty We evaluated the frequency of allelic variants of the CYP19A1 exons and the tetr... BeFree 24612204 Detail
<0.001 malignant mesothelioma NA BeFree Detail
0.051 Malignant neoplasm of prostate NA BeFree,GAD Detail
0.002 thrombophilia NA GAD Detail
<0.001 Bilateral Cryptorchidism NA BeFree Detail
0.019 endometrial carcinoma NA BeFree,GAD Detail
<0.001 dyslexia NA BeFree Detail
0.003 Thyroid carcinoma NA BeFree Detail
0.005 Menopause present (finding) NA GAD Detail
<0.001 Loss of scalp hair NA BeFree Detail
<0.001 Lower Urinary Tract Symptoms NA BeFree Detail
0.002 Carcinogenesis Overexpression of the aromatase enzyme CYP19 has been implicated in the onset of... BeFree 24927687 Detail
<0.001 Tumor Initiation NA BeFree Detail
0.007 prostate carcinoma NA BeFree,GAD Detail
0.003 Hot flushes NA BeFree,GAD Detail
0.002 hepatopulmonary syndrome NA GAD Detail
0.002 Epithelial ovarian cancer NA GAD Detail
<0.001 Carcinoma of lung NA BeFree Detail
0.002 Pregnancy loss NA GAD Detail
<0.001 stomach carcinoma NA BeFree Detail
<0.001 Premenopausal breast cancer NA BeFree Detail
0.001 Oestrogen deficiency NA BeFree Detail
0.005 ovarian neoplasm NA LHGDN Detail
<0.001 Developmental reading disorder We aimed at discovering single nucleotide variation present in known and new can... BeFree 25877001 Detail
<0.001 Metastatic Prostate Carcinoma NA BeFree Detail
0.005 Malignant neoplasm of ovary NA BeFree,GAD Detail
<0.001 Dysmetabolic syndrome NA BeFree Detail
<0.001 Conventional Chondrosarcoma NA BeFree Detail
0.002 Testicular Germ Cell Tumor NA GAD Detail
0.199 Mammary Neoplasms NA BeFree,CTD_human,GAD,LHGDN Detail
0.008 colorectal cancer NA BeFree,GAD Detail
0.080 Sjogren's syndrome NA MGD Detail
0.001 Benign Prostatic Hyperplasia NA BeFree Detail
<0.001 Endometrial Polyp NA BeFree Detail
<0.001 Azoospermia, Nonobstructive NA BeFree Detail
0.004 uterine corpus cancer NA BeFree Detail
0.240 Aromatase deficiency NA CTD_human,UNIPROT Detail
0.207 aromatase excess syndrome Recently, several germline rearrangements at 15q21 have been shown to cause over... BeFree,GAD,MGD,ORPHANET 23625277 Detail
0.207 aromatase excess syndrome Aromatase deficiency in a Chinese adult man caused by novel compound heterozygou... BeFree,GAD,MGD,ORPHANET 25301327 Detail
0.207 aromatase excess syndrome Since 1991, several molecular CYP19A1 gene alterations associated with aromatase... BeFree,GAD,MGD,ORPHANET 25415177 Detail
<0.001 malignant neoplasm of breast staging NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
0.002 Maduromycosis NA GAD Detail
0.002 Weight Loss Adverse Event NA GAD Detail
0.010 Prostatic Hyperplasia NA BeFree,GAD Detail
<0.001 Stage III Breast Cancer AJCC v7 The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and oper... BeFree 25793413 Detail
0.002 Juvenile arthritis NA GAD Detail
0.002 Infection NA GAD Detail
0.002 Abortion, Habitual NA GAD Detail
0.125 adenocarcinoma NA BeFree,CTD_human,GAD Detail
0.080 Tissue Adhesions NA RGD Detail
<0.001 Tumors of Adrenal Cortex NA BeFree Detail
0.002 alopecia NA GAD Detail
0.022 Alzheimer's disease NA BeFree,GAD,LHGDN Detail
0.120 amenorrhea NA CTD_human Detail
0.003 Anoxia NA LHGDN Detail
<0.001 aortic aneurysm NA BeFree Detail
<0.001 aortic valve insufficiency Additional studies are needed to clarify the predictive value of other SNPs and ... BeFree 26067721 Detail
<0.001 Arthralgia NA BeFree Detail
0.003 rheumatoid arthritis NA BeFree,GAD Detail
0.003 atherosclerosis NA LHGDN Detail
0.123 autistic disorder NA BeFree,CTD_human,GAD Detail
0.002 Malignant neoplasm of urinary bladder NA GAD Detail
<0.001 bladder neck obstruction NA BeFree Detail
0.120 Bone Resorption NA CTD_human Detail
0.004 Malignant neoplasm of endometrium NA BeFree Detail
<0.001 female breast carcinoma NA BeFree Detail
<0.001 Rectal Carcinoma NA BeFree Detail
0.002 Malignant neoplasm of thyroid NA BeFree Detail
0.003 Bronchioloalveolar Adenocarcinoma NA BeFree,GAD Detail
<0.001 Non-small cell lung carcinoma The biological roles of estrogen receptor 1 (ERS1), estrogen receptor 2 (ERS2), ... BeFree 25310221 Detail
<0.001 Carcinoma, Papillary NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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In the present study, we investigated the pharmacological effects of DNG through these PR isoforms o... DisGeNET Detail
Down-regulation of the CYP19A1 gene in cumulus cells of infertile women with endometriosis. DisGeNET Detail
NA DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
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We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
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All glioma cell lines included here expressed CYP19A1 and letrozole exerted considerable cytotoxicit... DisGeNET Detail
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Both Esr1 and CYP19A1 overexpressing mice responded to letrozole with reduced hyperplastic alveolar ... DisGeNET Detail
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In the present study, we investigated the pharmacological effects of DNG through these PR isoforms o... DisGeNET Detail
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Association study of ERβ, AR, and CYP19A1 genes and MtF transsexualism. DisGeNET Detail
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In the s.c. tumor model, both of the anaplastic thyroid carcinoma cell lines (ARO and FRO) were high... DisGeNET Detail
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The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and operable stage III breas... DisGeNET Detail
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To investigate the mRNA expression of aromatase enzyme and the other enzymes having functional roles... DisGeNET Detail
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We evaluated the frequency of allelic variants of the CYP19A1 exons and the tetranucleotide tandem r... DisGeNET Detail
We evaluated the frequency of allelic variants of the CYP19A1 exons and the tetranucleotide tandem r... DisGeNET Detail
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Overexpression of the aromatase enzyme CYP19 has been implicated in the onset of estrogen-dependent ... DisGeNET Detail
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We aimed at discovering single nucleotide variation present in known and new candidate genes for dev... DisGeNET Detail
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Recently, several germline rearrangements at 15q21 have been shown to cause overexpression of the ar... DisGeNET Detail
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations:... DisGeNET Detail
Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have bee... DisGeNET Detail
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The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and operable stage III breas... DisGeNET Detail
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Additional studies are needed to clarify the predictive value of other SNPs and whether CYP19A1 geno... DisGeNET Detail
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The biological roles of estrogen receptor 1 (ERS1), estrogen receptor 2 (ERS2), and aromatase (CYP19... DisGeNET Detail
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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
rs8175347 dbSNP
Genome
hg19
Position
chr15:51,500,254-51,630,793
Variant Type
snv
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