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: rs587782958
rs587782958
MYBPC3
10 0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05 0.700 0
dbSNP: rs121913638
rs121913638
MYH7
4 0.851 0.120 14 23425980 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1234386636
rs1234386636
DNAH8
1 1.000 0.120 6 38723365 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs138886989
rs138886989
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101401763 missense variant T/C snv 1.9E-04 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs376685205
rs376685205
GAA
1 1.000 0.120 17 80105089 missense variant G/A;T snv 1.3E-04; 1.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs397516347
rs397516347
TNNI3
5 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs397516354
rs397516354
TNNI3
8 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.010 1.000 1 2012 2012