ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Endometrial Carcinoma ×
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: rs2234693
rs2234693 		0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2008 2009
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2008 2009
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: rs1801132
rs1801132 		0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs3020314
rs3020314 		0.790 0.280 6 151949537 intron variant C/G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs79575945
rs79575945 		0.925 0.080 6 151837712 intron variant A/G snv 7.9E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015