ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: 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: rs188957694
rs188957694 		0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs2077647
rs2077647 		0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3798577
rs3798577 		0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2015 2015
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