Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.040 0.750 4 2001 2016
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 1.000 1 2009 2009
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 < 0.001 1 2007 2007
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		0.010 1.000 1 2015 2015
dbSNP: rs1801726
rs1801726
CASR
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 		0.010 1.000 1 2017 2017
dbSNP: rs1801726
rs1801726
CASR
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 		0.010 1.000 1 2009 2009
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.010 1.000 1 2007 2007
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1801726
rs1801726
CASR
0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.010 1.000 1 2007 2007
dbSNP: rs1801726
rs1801726
CASR
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 		0.010 1.000 1 2010 2010