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: 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: rs11571151
rs11571151 		11 101127486 missense variant C/G;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571151
rs11571151 		11 101127486 missense variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571151
rs11571151 		11 101127486 missense variant C/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571151
rs11571151 		11 101127486 missense variant C/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571151
rs11571151 		11 101127486 missense variant C/G;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571151
rs11571151 		11 101127486 missense variant C/G;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7928851
rs7928851 		11 101117160 intron variant C/A snv 1.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7928851
rs7928851 		11 101117160 intron variant C/A snv 1.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7928851
rs7928851 		11 101117160 intron variant C/A snv 1.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.667 6 2002 2020
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2008 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: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 1.000 3 2001 2015
dbSNP: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 1.000 3 2001 2015
dbSNP: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 1.000 3 2001 2015
dbSNP: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.020 0.500 2 2010 2015
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: 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: rs590688
rs590688 		0.925 0.080 11 101105243 intron variant C/G snv 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2020
dbSNP: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.010 1.000 1 2012 2012