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: 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: rs759862685
rs759862685 		11 101127694 missense variant C/G;T snv 1.5E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2004 2004
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: rs761872690
rs761872690 		0.925 0.080 11 101128246 synonymous variant G/A snv 2.8E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2004 2004
dbSNP: rs761872690
rs761872690 		0.925 0.080 11 101128246 synonymous variant G/A snv 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs376101426
rs376101426 		0.925 0.080 11 101128556 missense variant A/G snv 1.4E-05 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
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: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 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: 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: 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: rs775092033
rs775092033 		0.925 0.080 11 101127471 missense variant G/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs750042441
rs750042441 		0.827 0.160 11 101128367 missense variant G/A;C snv 6.1E-05; 4.3E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
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: rs757679709
rs757679709 		0.925 0.080 11 101129045 missense variant G/A;C snv 3.0E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs776880789
rs776880789 		0.925 0.080 11 101128241 missense variant G/C;T snv 4.7E-06; 4.7E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs776880789
rs776880789 		0.925 0.080 11 101128241 missense variant G/C;T snv 4.7E-06; 4.7E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs776880789
rs776880789 		0.925 0.080 11 101128241 missense variant G/C;T snv 4.7E-06; 4.7E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2006 2006
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