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: rs188957694
rs188957694 		0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs188957694
rs188957694 		0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs188957694
rs188957694 		0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs188957694
rs188957694 		0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05
CUI: C4087397
Disease: Mammary gland tumor
Mammary gland tumor 		0.010 1.000 1 2005 2005
dbSNP: rs188957694
rs188957694 		0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs200960801
rs200960801 		0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs200960801
rs200960801 		0.827 0.200 6 151944488 missense variant A/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 2005 2005
dbSNP: rs796065354
rs796065354 		0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1182554992
rs1182554992 		6 151880688 missense variant A/G snv 8.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1364963022
rs1364963022 		0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1364963022
rs1364963022 		0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1364963022
rs1364963022 		0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1364963022
rs1364963022 		0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1801132
rs1801132 		0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1801132
rs1801132 		0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1801132
rs1801132 		0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs200282497
rs200282497 		0.925 0.080 6 151944239 missense variant G/C snv 3.6E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs200282497
rs200282497 		0.925 0.080 6 151944239 missense variant G/C snv 3.6E-05 3.5E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs200282497
rs200282497 		0.925 0.080 6 151944239 missense variant G/C snv 3.6E-05 3.5E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs200282497
rs200282497 		0.925 0.080 6 151944239 missense variant G/C snv 3.6E-05 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs4870062
rs4870062 		1.000 0.040 6 151916483 intron variant G/T snv 0.61
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs6557170
rs6557170 		1.000 0.040 6 151881969 intron variant A/G snv 0.79
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs6557171
rs6557171 		1.000 0.040 6 151913458 intron variant T/A;C snv
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs9340773
rs9340773 		1.000 0.040 6 151808141 missense variant G/A;C snv 4.6E-03; 4.5E-06
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2006 2006