rs767363250, CASR

N. diseases: 2
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 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 6 1995 2012
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
43 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 6 1995 2012