rs121909258, CASR

N. diseases: 3
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.
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
42 0.882 0.160 3 122284337 missense variant C/T snv 7.0E-06 0.800 1.000 20 1993 2016
Familial benign hypercalcemia
CUI: C1809471
Disease: Familial benign hypercalcemia
32 0.882 0.160 3 122284337 missense variant C/T snv 7.0E-06 0.700 1.000 6 1993 2011
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
43 0.882 0.160 3 122284337 missense variant C/T snv 7.0E-06 0.700 1.000 6 1993 2011