ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Disease: ovarian 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: rs1271572
rs1271572 		0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2018
dbSNP: rs3020450
rs3020450 		0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2018 2019