ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
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: rs1455751791
rs1455751791 		0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1455751791
rs1455751791 		0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1455751791
rs1455751791 		0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1459132456
rs1459132456 		0.925 0.080 6 152125331 missense variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1459132456
rs1459132456 		0.925 0.080 6 152125331 missense variant T/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1462893414
rs1462893414 		0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2005 2007
dbSNP: rs1462893414
rs1462893414 		0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2005 2007
dbSNP: rs1462893414
rs1462893414 		0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2005 2007
dbSNP: rs1462893414
rs1462893414 		0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1462893414
rs1462893414 		0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs149308960
rs149308960 		0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs149308960
rs149308960 		0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs149308960
rs149308960 		0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs149308960
rs149308960 		0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs1562787582
rs1562787582 		1.000 6 152099207 3 prime UTR variant T/A snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.700 0
dbSNP: rs1569788
rs1569788 		0.925 0.080 6 152007481 intron variant T/C snv 0.39
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs1569788
rs1569788 		0.925 0.080 6 152007481 intron variant T/C snv 0.39
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1643821
rs1643821 		6 151862416 intron variant G/A snv 0.46
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2012 2012
dbSNP: rs1643821
rs1643821 		6 151862416 intron variant G/A snv 0.46
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1709183
rs1709183 		0.882 0.160 6 151872861 intron variant C/T snv 0.67
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1709183
rs1709183 		0.882 0.160 6 151872861 intron variant C/T snv 0.67
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1709183
rs1709183 		0.882 0.160 6 151872861 intron variant C/T snv 0.67
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs17847075
rs17847075 		1.000 0.040 6 151807942 synonymous variant T/A;C snv
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2020 2020
dbSNP: rs1801132
rs1801132 		0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.060 1.000 6 2007 2015
dbSNP: rs1801132
rs1801132 		0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2007 2015