PGR, progesterone receptor, 5241

N. diseases: 392; N. variants: 33
Disease: Malignant neoplasm of breast ×
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: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.667 6 2002 2020
dbSNP: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2008 2020
dbSNP: rs590688
rs590688 		0.925 0.080 11 101105243 intron variant C/G snv 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2020
dbSNP: rs1042839
rs1042839 		0.925 0.080 11 101051471 synonymous variant G/A snv 0.13 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10895054
rs10895054 		0.925 0.080 11 101039579 intron variant A/T snv 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11571149
rs11571149 		0.925 0.080 11 101127937 missense variant G/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1293387481
rs1293387481 		0.925 0.080 11 101062537 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1312187959
rs1312187959 		0.925 0.080 11 101128554 missense variant C/T snv 1.4E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1408080623
rs1408080623 		0.851 0.080 11 101128058 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3740753
rs3740753 		0.925 0.080 11 101128040 missense variant C/G snv 0.13 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs376101426
rs376101426 		0.925 0.080 11 101128556 missense variant A/G snv 1.4E-05 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs500760
rs500760 		0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs518162
rs518162 		0.925 0.080 11 101129770 5 prime UTR variant A/G snv 0.86
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs750042441
rs750042441 		0.827 0.160 11 101128367 missense variant G/A;C snv 6.1E-05; 4.3E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs757679709
rs757679709 		0.925 0.080 11 101129045 missense variant G/A;C snv 3.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs761872690
rs761872690 		0.925 0.080 11 101128246 synonymous variant G/A snv 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs772873062
rs772873062 		0.925 0.080 11 101128998 missense variant A/G snv 4.8E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs775092033
rs775092033 		0.925 0.080 11 101127471 missense variant G/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs776880789
rs776880789 		0.925 0.080 11 101128241 missense variant G/C;T snv 4.7E-06; 4.7E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006