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: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
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: rs1042838
rs1042838 		0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
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: 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: 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: 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: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue 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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; 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: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
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: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C4317171
Disease: Adolescent Obesity
Adolescent Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
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: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs10895068
rs10895068 		0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11571149
rs11571149 		0.925 0.080 11 101127937 missense variant G/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs11571149
rs11571149 		0.925 0.080 11 101127937 missense variant G/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
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