CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1042636
rs1042636
0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs104893710
rs104893710
0.851 0.200 3 122284413 missense variant C/T snv
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1385228926
rs1385228926
1.000 0.040 3 122284388 missense variant C/T snv
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs751813138
rs751813138
1.000 0.080 3 122262113 missense variant C/T snv 4.0E-06
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013