rs28936684, CASR

N. diseases: 4
Source: CURATED ×
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
11 0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06 0.810 1.000 0 2016 2016
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
42 0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06 0.810 1.000 0 2016 2016
Familial benign hypercalcemia
CUI: C1809471
Disease: Familial benign hypercalcemia
32 0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06 0.700 1.000 8 1992 2016
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
43 0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06 0.700 1.000 8 1992 2016