rs193922442, CASR

N. diseases: 5
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.
Familial benign hypercalcemia
CUI: C1809471
Disease: Familial benign hypercalcemia
35 0.827 0.120 3 122261589 frameshift variant G/- del 0.700 0
HYPERPARATHYROIDISM, NEONATAL SEVERE
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
14 0.827 0.120 3 122261589 frameshift variant G/- del 0.020 1.000 2 2016 2019
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.827 0.120 3 122261589 frameshift variant G/- del 0.010 1.000 1 2019 2019
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
58 0.827 0.120 3 122261589 frameshift variant G/- del 0.010 1.000 1 2016 2016
Neonatal hyperparathyroidism
CUI: C0345406
Disease: Neonatal hyperparathyroidism
3 0.827 0.120 3 122261589 frameshift variant G/- del 0.010 1.000 1 2011 2011