rs777483913, CAPN3

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.
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
146 1.000 0.120 15 42399607 missense variant C/T snv 2.0E-05 7.0E-06 0.800 1.000 12 1995 2017
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 1.000 0.120 15 42399607 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018