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: rs770795658
rs770795658 		11 101127788 missense variant C/T snv 6.1E-06 7.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2015 2015
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: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0033893
Disease: Tension Headache
Tension Headache 		Nervous System Diseases 0.010 1.000 1 2010 2010
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: 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: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: 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: 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: rs1408080623
rs1408080623 		0.851 0.080 11 101128058 missense variant G/A snv
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		0.010 1.000 1 2015 2015
dbSNP: rs1408080623
rs1408080623 		0.851 0.080 11 101128058 missense variant G/A snv
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		0.010 1.000 1 2015 2015
dbSNP: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
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: 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: 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: 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: rs750042441
rs750042441 		0.827 0.160 11 101128367 missense variant G/A;C snv 6.1E-05; 4.3E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1378623195
rs1378623195 		1.000 0.160 11 101127945 missense variant G/A snv 8.2E-06 2.8E-05
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1293387481
rs1293387481 		0.925 0.080 11 101062537 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1408080623
rs1408080623 		0.851 0.080 11 101128058 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
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: 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