Source: ALL

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: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2015 2015
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.080 0.875 8 2001 2016
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.060 1.000 6 2006 2019
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.060 1.000 6 2006 2019
dbSNP: rs1042636
rs1042636
CASR
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 		0.020 1.000 2 2002 2009
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		0.020 1.000 2 2015 2017
dbSNP: rs1042636
rs1042636
CASR
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 		0.020 1.000 2 2002 2009
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.010 1.000 1 2002 2002
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0543800
Disease: Idiopathic hypercalciuria
Idiopathic hypercalciuria 		0.010 1.000 1 2002 2002
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1042636
rs1042636
CASR
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 		0.010 1.000 1 2015 2015
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.010 1.000 1 2002 2002
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary 		0.010 1.000 1 2012 2012
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.010 1.000 1 2012 2012
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2014 2014
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1042636
rs1042636
CASR
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 		0.010 1.000 1 2017 2017
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.010 1.000 1 2012 2012
dbSNP: rs1042636
rs1042636
CASR
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 		0.010 1.000 1 2010 2010
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.010 1.000 1 2008 2008
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		0.010 1.000 1 2012 2012
dbSNP: rs1042636
rs1042636
CASR
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 < 0.001 1 2007 2007