ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Neoplasm Metastasis ×
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: 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: 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: rs9397080
rs9397080 		1.000 0.040 6 152059380 intron variant C/T snv 0.22
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012