ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
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: rs1256049
rs1256049
0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.040 0.500 4 2005 2018
dbSNP: rs4986938
rs4986938
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2005 2014
dbSNP: rs1256054
rs1256054
0.882 0.120 14 64249595 synonymous variant G/C snv 2.8E-03 9.6E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1271572
rs1271572
0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1887994
rs1887994
0.925 0.080 14 64293893 intron variant C/A snv 7.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2987983
rs2987983
0.882 0.080 14 64296935 intron variant A/G snv 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3020449
rs3020449
0.807 0.200 14 64306674 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs928554
rs928554
0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005