PGR, progesterone receptor, 5241

N. diseases: 392; N. variants: 33
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: rs11224561
rs11224561 		0.925 0.080 11 101034325 3 prime UTR variant C/A;T snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2009 2011
dbSNP: rs11224561
rs11224561 		0.925 0.080 11 101034325 3 prime UTR variant C/A;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2009 2011
dbSNP: rs471767
rs471767 		0.925 0.080 11 101034566 3 prime UTR variant G/A;C snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs471767
rs471767 		0.925 0.080 11 101034566 3 prime UTR variant G/A;C snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs608995
rs608995 		0.882 0.120 11 101035002 3 prime UTR variant A/T snv 0.27
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs608995
rs608995 		0.882 0.120 11 101035002 3 prime UTR variant A/T snv 0.27
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs608995
rs608995 		0.882 0.120 11 101035002 3 prime UTR variant A/T snv 0.27
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs484389
rs484389 		1.000 0.040 11 101039078 3 prime UTR variant A/G snv 0.24 0.29
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009
dbSNP: rs500760
rs500760 		0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs500760
rs500760 		0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 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: 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: rs10895054
rs10895054 		0.925 0.080 11 101039579 intron variant A/T snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1456079929
rs1456079929 		0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1456079929
rs1456079929 		0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1456079929
rs1456079929 		0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs1456079929
rs1456079929 		0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1456079929
rs1456079929 		0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs11224571
rs11224571 		11 101047942 intron variant C/A snv 1.2E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11224571
rs11224571 		11 101047942 intron variant C/A snv 1.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11224571
rs11224571 		11 101047942 intron variant C/A snv 1.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs1042839
rs1042839 		0.925 0.080 11 101051471 synonymous variant G/A snv 0.13 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
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: rs1293387481
rs1293387481 		0.925 0.080 11 101062537 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0860580
Disease: Medullary carcinoma of breast
Medullary carcinoma of breast 		0.010 1.000 1 2009 2009