ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Disease: Primary malignant neoplasm ×
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: rs3020450
rs3020450 		0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 < 0.001 2 2014 2019
dbSNP: rs3020449
rs3020449 		0.807 0.200 14 64306674 intron variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs4986938
rs4986938 		0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2019 2019