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: rs1033182
rs1033182 		0.882 0.160 6 151873899 intron variant G/A snv 0.26
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: rs1033182
rs1033182 		0.882 0.160 6 151873899 intron variant G/A snv 0.26
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: rs1033182
rs1033182 		0.882 0.160 6 151873899 intron variant G/A snv 0.26
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: rs10484919
rs10484919 		0.925 0.080 6 151653287 upstream gene variant C/T snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2016
dbSNP: rs10484919
rs10484919 		0.925 0.080 6 151653287 upstream gene variant C/T snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2016
dbSNP: rs104893956
rs104893956 		1.000 6 151842613 stop gained C/T snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.700 0
dbSNP: rs1057519714
rs1057519714 		6 152094402 missense variant T/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1057519715
rs1057519715 		1.000 0.080 6 152098779 missense variant T/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1057519715
rs1057519715 		1.000 0.080 6 152098779 missense variant T/A snv
CUI: C0346993
Disease: Secondary malignant neoplasm of female breast
Secondary malignant neoplasm of female breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057519716
rs1057519716 		6 152098782 missense variant C/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1057519717
rs1057519717 		6 152098785 missense variant T/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2013 2013
dbSNP: rs1057519827
rs1057519827 		6 152011697 missense variant G/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2013 2014
dbSNP: rs1057519827
rs1057519827 		6 152011697 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1062577
rs1062577 		0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017
dbSNP: rs1062577
rs1062577 		0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017
dbSNP: rs1062577
rs1062577 		0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2013 2013
dbSNP: rs1062577
rs1062577 		0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2013 2013
dbSNP: rs10872678
rs10872678 		6 151718829 intron variant T/C snv 0.33
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs1101081
rs1101081 		6 151711782 intron variant C/T snv 0.26
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs11155811
rs11155811 		6 151756711 intron variant C/T snv 0.44
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs11155819
rs11155819 		1.000 0.040 6 151878224 intron variant T/C snv 0.25
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1124674
rs1124674 		6 151759600 intron variant T/C;G snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1131692059
rs1131692059 		1.000 6 152011740 missense variant G/A snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 0
dbSNP: rs11446767
rs11446767 		6 151754327 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTTTTTT delins
CUI: C0425782
Disease: Breast size
Breast size 		0.700 1.000 1 2018 2018
dbSNP: rs1159327
rs1159327 		1.000 0.040 6 151726887 intron variant C/T snv 0.32
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013