rs201858689, CASR

N. diseases: 3
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.
HYPERPARATHYROIDISM, NEONATAL SEVERE
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
14 0.882 0.120 3 122284257 missense variant G/T snv 2.8E-05 0.700 1.000 1 2014 2014
Hypercalcemia
CUI: C0020437
Disease: Hypercalcemia
9 0.882 0.120 3 122284257 missense variant G/T snv 2.8E-05 0.010 1.000 1 2014 2014
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.882 0.120 3 122284257 missense variant G/T snv 2.8E-05 0.010 1.000 1 2014 2014