CAPN5, calpain 5, 726

N. diseases: 46; N. variants: 10
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: rs2233546
rs2233546
1.000 0.040 11 77102915 missense variant C/A;G;T snv 1.4E-04; 4.1E-06; 7.0E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2233549
rs2233549
1.000 0.040 11 77103064 synonymous variant G/A snv 0.22 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4945140
rs4945140
1.000 0.040 11 77074406 intron variant G/A;C snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007