chr6:32936371:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr6:32,936,371-32,949,282
hg38 chr6:32,968,594-32,981,505 

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 colorectal carcinoma NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 Diabetic Nephropathy NA BeFree Detail
<0.001 Dwarfism NA BeFree Detail
<0.001 Pituitary dwarfism NA BeFree Detail
<0.001 endometriosis NA BeFree Detail
<0.001 epidermodysplasia verruciformis NA BeFree Detail
<0.001 epilepsy NA BeFree Detail
<0.001 Epilepsy, Generalized NA BeFree Detail
0.003 Epilepsies, Myoclonic NA LHGDN Detail
<0.001 Exanthema NA BeFree Detail
<0.001 Galactosemias NA BeFree Detail
<0.001 glioblastoma NA BeFree Detail
<0.001 granulosa cell tumor NA BeFree Detail
0.004 hepatitis B Our lookback study suggests a low (0·2-3·3%) but measurable rate of HBV transmis... BeFree 25234417 Detail
0.004 HIV Infections NA BeFree Detail
<0.001 hyperglycemia NA BeFree Detail
<0.001 hyperprolactinemia NA BeFree Detail
<0.001 hypopituitarism NA BeFree Detail
0.001 male infertility NA BeFree Detail
0.004 Klinefelter syndrome NA BeFree Detail
<0.001 leukemia NA BeFree Detail
0.002 Lupus Erythematosus, Systemic NA GAD Detail
0.003 lymphoma NA BeFree,LHGDN Detail
<0.001 Lymphoma, Non-Hodgkin NA BeFree Detail
0.120 medulloblastoma NA CTD_human Detail
<0.001 melanoma We identify BRD2 as an H2A.Z-interacting protein, levels of which are also eleva... BeFree 26051178 Detail
0.002 premature menopause NA BeFree Detail
<0.001 Mental Retardation NA BeFree Detail
<0.001 Monosomy NA BeFree Detail
<0.001 spinal muscular atrophy NA BeFree Detail
<0.001 obesity NA BeFree Detail
<0.001 Obesity, Morbid NA BeFree Detail
0.001 oligospermia NA BeFree Detail
<0.001 osteoporosis NA BeFree Detail
0.003 ovarian carcinoma This hypothesis is further supported by the recent understanding that: i) cancer... BeFree 25269615 Detail
0.005 Ovarian Diseases NA BeFree Detail
<0.001 pituitary adenoma NA BeFree Detail
0.013 Pituitary Diseases NA BeFree Detail
<0.001 Pituitary Neoplasms NA BeFree Detail
0.002 polycystic ovary syndrome Furthermore, this polymorphism was significantly associated with decreased 2-hou... BeFree 25956367 Detail
<0.001 prolactinoma NA BeFree Detail
<0.001 pseudohypoparathyroidism NA BeFree Detail
<0.001 retinoblastoma NA BeFree Detail
<0.001 Kaposi sarcoma NA BeFree Detail
<0.001 Seizures NA BeFree Detail
<0.001 Androgen-Insensitivity Syndrome NA BeFree Detail
0.002 Turner syndrome NA BeFree Detail
<0.001 Virilism NA BeFree Detail
<0.001 Virus Diseases NA BeFree Detail
0.003 B-Cell Lymphomas NA LHGDN Detail
<0.001 diffuse large B-cell lymphoma NA BeFree Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
0.002 ovarian hyperstimulation syndrome NA BeFree Detail
0.006 Ovarian Failure, Premature Any defect in FSH-FSHR3-stem cell interaction in OSE may affect folliculogenesis... BeFree 25269615 Detail
<0.001 Polycystic Kidney, Autosomal Dominant NA BeFree Detail
<0.001 polydactyly NA BeFree Detail
<0.001 hyperandrogenism NA BeFree Detail
<0.001 Congenital hypoplasia of adrenal gland NA BeFree Detail
<0.001 Primary physiologic amenorrhea NA BeFree Detail
<0.001 Secondary physiologic amenorrhea NA BeFree Detail
<0.001 Muscular Dystrophy, Facioscapulohumeral NA BeFree Detail
<0.001 panhypopituitarism NA BeFree Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 CHARGE syndrome NA BeFree Detail
<0.001 Streak gonad NA BeFree Detail
<0.001 Liver cyst NA BeFree Detail
<0.001 Classical galactosemia NA BeFree Detail
<0.001 Reifenstein Syndrome NA BeFree Detail
<0.001 idiopathic generalized epilepsy NA BeFree Detail
0.007 Myoclonic Epilepsy, Juvenile NA BeFree,GAD,LHGDN Detail
0.003 hypogonadotropic hypogonadism NA BeFree Detail
<0.001 Impaired glucose tolerance NA BeFree Detail
<0.001 Hyperplastic Polyp NA BeFree Detail
<0.001 Fibrolamellar hepatocellular carcinoma NA BeFree Detail
0.001 Adrenocorticotropic hormone (ACTH) deficiency (disorder) NA BeFree Detail
<0.001 Adrenal hypertrophy or hyperplasia NA BeFree Detail
<0.001 Ovarian dysgenesis NA BeFree Detail
<0.001 pituitary carcinoma NA BeFree Detail
<0.001 Growth Hormone-Secreting Pituitary Adenoma NA BeFree Detail
<0.001 Gonadotroph adenoma NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Hematologic Neoplasms NA BeFree Detail
<0.001 idiopathic epilepsy NA BeFree Detail
<0.001 Testicular dysfunction NA BeFree Detail
<0.001 Anovulatory NA BeFree Detail
<0.001 Dysmorphic features NA BeFree Detail
0.001 Klinefelter's syndrome - male with more than two X chromosomes NA BeFree Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
0.001 Carcinogenesis NA BeFree Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
0.002 Carcinoma of bladder NA BeFree Detail
<0.001 Ovarian failure NA BeFree Detail
<0.001 early pregnancy NA BeFree Detail
<0.001 Chromosome 3, monosomy 3p NA BeFree Detail
<0.001 Spots on skin NA BeFree Detail
<0.001 Hormone secreting pituitary neoplasms NA BeFree Detail
<0.001 21-hydroxylase deficiency NA BeFree Detail
<0.001 ovarian neoplasm NA BeFree Detail
0.002 Primary hypogonadism NA BeFree Detail
<0.001 Hurthle Cell Tumor NA BeFree Detail
<0.001 West Nile viral infection NA BeFree Detail
0.003 Malignant neoplasm of ovary This hypothesis is further supported by the recent understanding that: i) cancer... BeFree 25269615 Detail
<0.001 sarcoma NA BeFree Detail
<0.001 Epithelioma NA BeFree Detail
<0.001 Oncocytic Neoplasm NA BeFree Detail
<0.001 Primary testicular failure NA BeFree Detail
<0.001 Congenital absence of germinal epithelium of testes NA BeFree Detail
<0.001 oxyphilic adenoma NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Adrenal hyperplasia NA BeFree Detail
<0.001 Azoospermia, Nonobstructive NA BeFree Detail
<0.001 Follicle-stimulating hormone deficiency, isolated NA BeFree Detail
<0.001 uterine corpus cancer NA BeFree Detail
<0.001 Parvovirus B19 (disease) NA BeFree Detail
<0.001 Hypergonadotropic amenorrhea NA BeFree Detail
<0.001 aromatase excess syndrome NA BeFree Detail
0.003 Leukemia, B-Cell NA LHGDN Detail
<0.001 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NA BeFree Detail
<0.001 Ogden syndrome The X-linked lethal Ogden syndrome was the first reported human genetic disorder... BeFree 25489052 Detail
<0.001 Pseudohypoparathyroidism, Type Ia NA BeFree Detail
<0.001 Diminished ovarian reserve NA BeFree Detail
0.002 Spontaneous abortion NA GAD Detail
0.004 adenoma NA BeFree Detail
<0.001 congenital adrenal hyperplasia NA BeFree Detail
0.002 Alzheimer's disease NA GAD Detail
0.002 amenorrhea POI was defined as amenorrhea of more than 4 months with increased FSH before th... BeFree 25750103 Detail
0.003 asthma NA BeFree,GAD Detail
0.004 azoospermia NA BeFree,GAD Detail
<0.001 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.002 Malignant neoplasm of urinary bladder NA BeFree Detail
<0.001 Bladder Neoplasm NA BeFree Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 Cachexia NA BeFree Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

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Our lookback study suggests a low (0·2-3·3%) but measurable rate of HBV transmission in Australia as... DisGeNET Detail
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We identify BRD2 as an H2A.Z-interacting protein, levels of which are also elevated in melanoma. DisGeNET Detail
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This hypothesis is further supported by the recent understanding that: i) cancer is a stem cell dise... DisGeNET Detail
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Furthermore, this polymorphism was significantly associated with decreased 2-hour glucose, apolipopr... DisGeNET Detail
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Any defect in FSH-FSHR3-stem cell interaction in OSE may affect folliculogenesis and thus result in ... DisGeNET Detail
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This hypothesis is further supported by the recent understanding that: i) cancer is a stem cell dise... DisGeNET Detail
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The X-linked lethal Ogden syndrome was the first reported human genetic disorder associated with a m... DisGeNET Detail
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POI was defined as amenorrhea of more than 4 months with increased FSH before the age of 40. DisGeNET Detail
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Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... 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
rs386545618 dbSNP
Genome
hg19
Position
chr6:32,936,371-32,949,282
Variant Type
snv
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