rs104893703, CASR

N. diseases: 2
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.
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
22 0.925 0.120 3 122283800 missense variant C/G snv 0.700 1.000 20 1994 2015
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
44 0.925 0.120 3 122283800 missense variant C/G snv 0.700 0