rs1042636, CASR

N. diseases: 23
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Psoriasis
CUI: C0033860
Disease: Psoriasis
705 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.700 1.000 1 2015 2015
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
39 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.080 0.875 8 2001 2016
Kidney Calculi
CUI: C0022650
Disease: Kidney Calculi
71 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.060 1.000 6 2006 2019
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.060 1.000 6 2006 2019
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.020 1.000 2 2002 2009
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.020 1.000 2 2002 2009
Urolithiasis
CUI: C0451641
Disease: Urolithiasis
33 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.020 1.000 2 2015 2017
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2017 2017
Hypercalcemia
CUI: C0020437
Disease: Hypercalcemia
9 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
Hyperparathyroidism, Secondary
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
4 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
169 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2014 2014
Hypocalcemia
CUI: C0020598
Disease: Hypocalcemia
13 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2002 2002
Idiopathic hypercalciuria
CUI: C0543800
Disease: Idiopathic hypercalciuria
1 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2002 2002
Kidney Failure
CUI: C0035078
Disease: Kidney Failure
36 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2002 2002
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2010 2010
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2017 2017
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1 2007 2007
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2008 2008
Parathyroid Gland Adenocarcinoma
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
22 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2010 2010
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
37 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2015 2015