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: rs104893689
rs104893689
CASR
0.790 0.200 3 122261589 missense variant G/A;C snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		0.810 1.000 1 1976 2016
dbSNP: rs121909262
rs121909262
CASR
0.851 0.120 3 122254304 missense variant C/G;T snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		0.810 1.000 1 1993 2016
dbSNP: rs28936684
rs28936684
CASR
0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.810 1.000 1 2016 2016
dbSNP: rs28936684
rs28936684
CASR
0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		0.810 1.000 1 2016 2016
dbSNP: rs104893705
rs104893705
CASR
0.882 0.120 3 122283896 stop gained C/A;G;T snv 4.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		0.730 1.000 3 2001 2004
dbSNP: rs104893689
rs104893689
CASR
0.790 0.200 3 122261589 missense variant G/A;C snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.720 1.000 2 2016 2019
dbSNP: rs104893694
rs104893694
CASR
0.925 0.120 3 122257347 missense variant C/T snv
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		0.710 1.000 1 1996 1996
dbSNP: rs1060502855
rs1060502855
CASR
0.882 0.160 3 122261567 missense variant A/G snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		0.710 1.000 1 2018 2018
dbSNP: rs1060502861
rs1060502861
CASR
1.000 0.080 3 122282156 missense variant G/A snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.710 1.000 1 2007 2007
dbSNP: rs121909259
rs121909259
CASR
0.882 0.160 3 122261924 missense variant G/A snv
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.710 1.000 1 2012 2012
dbSNP: rs767363250
rs767363250
CASR
0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		0.710 1.000 1 1995 2012
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: 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: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.060 1.000 6 2006 2019
dbSNP: rs1801725
rs1801725
CASR
0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.060 0.667 6 2001 2018
dbSNP: rs1501899
rs1501899
CASR
0.790 0.240 3 122188481 intron variant A/G snv 0.62
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.040 1.000 4 2011 2019
dbSNP: rs1501899
rs1501899
CASR
0.790 0.240 3 122188481 intron variant A/G snv 0.62
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.040 1.000 4 2011 2019
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: rs756322971
rs756322971
CASR
0.763 0.240 3 122284955 missense variant C/A;G snv
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.040 0.750 4 2001 2016
dbSNP: rs6776158
rs6776158
CASR
0.925 0.120 3 122183002 upstream gene variant G/A snv 0.61
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.030 1.000 3 2013 2019
dbSNP: rs6776158
rs6776158
CASR
0.925 0.120 3 122183002 upstream gene variant G/A snv 0.61
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.030 1.000 3 2013 2019
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: 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: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.020 1.000 2 2002 2009
dbSNP: rs104893712
rs104893712
CASR
0.882 0.160 3 122283764 missense variant G/A snv
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		0.020 1.000 2 2003 2003