Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs886042108
rs886042108
CAPN3
10 0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
6 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
dbSNP: rs747900252
rs747900252
COL6A2
6 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 0