Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3750716
rs3750716
CPN1
0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.710 1.000 1 2016 2016
dbSNP: rs3750716
rs3750716
CPN1
0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016