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: 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
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: 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: 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: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular 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: 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
dbSNP: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 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: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs776983648
rs776983648 		1.000 0.040 11 101127885 missense variant C/A;G snv 4.4E-06
CUI: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy 		Eye 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: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
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: 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