rs1057518933, 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.
Hypercalcemia
CUI: C0020437
Disease: Hypercalcemia
9 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
Hypocalciuria
CUI: C0020599
Disease: Hypocalciuria
4 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
58 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
Parathyroid Adenoma
CUI: C0262587
Disease: Parathyroid Adenoma
12 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0