CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
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: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.040 0.750 4 2001 2016
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1801726
rs1801726 		0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.080 0.875 8 2001 2016
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.060 1.000 6 2006 2019
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.060 1.000 6 2006 2019
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2015 2017
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2002 2009
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2002 2009
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1042636
rs1042636 		0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017