rs1060502855, 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.
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
58 0.882 0.160 3 122261567 missense variant A/G snv 0.710 1.000 1 2018 2018
Familial benign hypercalcemia
CUI: C1809471
Disease: Familial benign hypercalcemia
35 0.882 0.160 3 122261567 missense variant A/G snv 0.700 0
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
44 0.882 0.160 3 122261567 missense variant A/G snv 0.700 0