PRLR, prolactin receptor, 5618

N. diseases: 110; N. variants: 15
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: rs398122522
rs398122522 		0.925 0.160 5 35070174 missense variant T/C snv
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		Nervous System Diseases; Endocrine System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs72478580
rs72478580 		1.000 5 35072610 missense variant T/G snv 1.9E-02 1.9E-02
CUI: C3809918
Disease: MULTIPLE FIBROADENOMAS OF THE BREAST
MULTIPLE FIBROADENOMAS OF THE BREAST 		0.800 1.000 1 2008 2008
dbSNP: rs376188691
rs376188691 		1.000 0.080 5 35072607 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs754974807
rs754974807 		1.000 0.080 5 35068265 missense variant G/A snv 2.4E-05 7.0E-05
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs10068521
rs10068521 		5 35230278 5 prime UTR variant G/A;C snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10941235
rs10941235 		0.925 0.080 5 35185478 intron variant C/T snv 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10941235
rs10941235 		0.925 0.080 5 35185478 intron variant C/T snv 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13436213
rs13436213 		0.925 0.080 5 35185724 intron variant C/T snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13436213
rs13436213 		0.925 0.080 5 35185724 intron variant C/T snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1456671183
rs1456671183 		1.000 0.120 5 35065526 missense variant C/G snv 4.0E-06
CUI: C0033375
Disease: Prolactinoma
Prolactinoma 		Neoplasms; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs147265072
rs147265072 		1.000 0.120 5 35065411 missense variant T/A;C snv 9.0E-04; 4.0E-06
CUI: C0033375
Disease: Prolactinoma
Prolactinoma 		Neoplasms; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs192767214
rs192767214 		1.000 0.120 5 35065789 missense variant T/C snv
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs249537
rs249537 		0.925 0.080 5 35089198 intron variant G/A snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs249537
rs249537 		0.925 0.080 5 35089198 intron variant G/A snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs37364
rs37364 		0.925 0.120 5 35072278 intron variant T/G snv 0.34
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs37364
rs37364 		0.925 0.120 5 35072278 intron variant T/G snv 0.34
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2011 2011
dbSNP: rs37389
rs37389 		1.000 0.040 5 35085078 intron variant G/A;C;T snv
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs398122522
rs398122522 		0.925 0.160 5 35070174 missense variant T/C snv
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs72478580
rs72478580 		1.000 5 35072610 missense variant T/G snv 1.9E-02 1.9E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs7718468
rs7718468 		0.925 0.080 5 35200934 intron variant A/G snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs7718468
rs7718468 		0.925 0.080 5 35200934 intron variant A/G snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9292578
rs9292578 		5 35229973 intron variant C/A;G snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013