rs767363250, CASR

N. diseases: 5
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.
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
58 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 7 1995 2012
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
44 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 6 1995 2012
Familial benign hypercalcemia
CUI: C1809471
Disease: Familial benign hypercalcemia
35 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
Hyperparathyroidism-Jaw Tumor Syndrome
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
7 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010