BRD2, bromodomain containing 2, 6046

N. diseases: 303; N. variants: 20
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3918149
rs3918149 		1.000 0.040 6 32968596 5 prime UTR variant G/A snv 0.11
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		Nervous System Diseases 0.040 0.750 4 2007 2019
dbSNP: rs17840186
rs17840186 		1.000 0.080 6 32970422 non coding transcript exon variant G/A snv 6.6E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs748209924
rs748209924 		1.000 0.040 6 32974462 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs199590043
rs199590043 		1.000 0.080 6 32974624 synonymous variant G/C;T snv 1.6E-05; 8.0E-06
CUI: C0342386
Disease: Follicle stimulating hormone deficiency
Follicle stimulating hormone deficiency 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs765704299
rs765704299 		1.000 0.120 6 32976157 missense variant G/A snv 4.1E-06
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs776772440
rs776772440 		1.000 0.120 6 32976578 missense variant G/A snv 4.2E-06
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1260256848
rs1260256848 		6 32976634 missense variant G/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1260256848
rs1260256848 		6 32976634 missense variant G/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1376873864
rs1376873864 		0.925 0.080 6 32976646 missense variant G/A snv 4.1E-06
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.030 0.667 3 2006 2010
dbSNP: rs1376873864
rs1376873864 		0.925 0.080 6 32976646 missense variant G/A snv 4.1E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.667 3 2006 2010
dbSNP: rs150794546
rs150794546 		1.000 0.040 6 32976655 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs764611833
rs764611833 		1.000 0.120 6 32976671 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs765967593
rs765967593 		0.925 0.080 6 32976773 missense variant T/C snv 8.1E-06
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs765967593
rs765967593 		0.925 0.080 6 32976773 missense variant T/C snv 8.1E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs757975291
rs757975291 		0.851 0.120 6 32976868 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2004 2007
dbSNP: rs757975291
rs757975291 		0.851 0.120 6 32976868 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2004 2007
dbSNP: rs757975291
rs757975291 		0.851 0.120 6 32976868 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2004 2004
dbSNP: rs757975291
rs757975291 		0.851 0.120 6 32976868 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2004 2004
dbSNP: rs764147069
rs764147069 		1.000 0.040 6 32977458 missense variant G/A snv 4.0E-06
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs949142013
rs949142013 		0.925 0.120 6 32977541 missense variant G/A snv
CUI: C0016952
Disease: Galactosemias
Galactosemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1994 1994
dbSNP: rs949142013
rs949142013 		0.925 0.120 6 32977541 missense variant G/A snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1994 1994
dbSNP: rs201781653
rs201781653 		0.925 0.080 6 32977805 missense variant C/A;T snv 4.1E-06; 1.6E-05
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs201781653
rs201781653 		0.925 0.080 6 32977805 missense variant C/A;T snv 4.1E-06; 1.6E-05
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs184752888
rs184752888 		0.882 0.120 6 32977847 missense variant G/A snv
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2004 2009
dbSNP: rs184752888
rs184752888 		0.882 0.120 6 32977847 missense variant G/A snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2013