rs201851934, 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 0.925 0.120 3 122261549 missense variant A/C;G snv 4.0E-06 0.800 1.000 22 1993 2016
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
43 0.925 0.120 3 122261549 missense variant A/C;G snv 4.0E-06 0.700 1.000 4 2009 2016