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: rs397516178
rs397516178
MYH7
1 1.000 0.080 14 23422291 missense variant C/A;G;T snv 1.6E-05; 3.6E-05 0.700 1.000 7 2008 2017
dbSNP: rs727504285
rs727504285
TNNI3
1 1.000 0.080 19 55151875 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 5 2005 2017
dbSNP: rs727504385
rs727504385
MYH7 ; MHRT
1 1.000 0.080 14 23415210 missense variant T/C snv 0.700 1.000 5 2011 2017
dbSNP: rs758891557
rs758891557
MYH7
1 1.000 0.080 14 23424854 missense variant T/A;C snv 4.0E-06 7.0E-06 0.700 1.000 5 2006 2017
dbSNP: rs1060501448
rs1060501448
MYH7
1 1.000 0.080 14 23425792 missense variant A/G snv 0.700 1.000 4 2011 2017
dbSNP: rs727503506
rs727503506
TNNI3
1 1.000 0.080 19 55154743 missense variant C/G snv 8.0E-06 0.700 1.000 4 2011 2017
dbSNP: rs727504294
rs727504294
MYH7
1 1.000 0.080 14 23427714 missense variant C/G;T snv 0.700 1.000 4 1995 2017
dbSNP: rs730880800
rs730880800
MYH7 ; MIR208B ; MHRT
1 1.000 0.080 14 23417556 missense variant G/A snv 0.700 1.000 4 2011 2017
dbSNP: rs1057517773
rs1057517773
MYH7
1 1.000 0.080 14 23431641 missense variant C/T snv 0.700 1.000 3 2016 2017
dbSNP: rs1060501443
rs1060501443
MYH7
1 1.000 0.080 14 23427855 missense variant A/G snv 0.700 1.000 3 2011 2017
dbSNP: rs1224554825
rs1224554825
MYH7
1 1.000 0.080 14 23425991 missense variant C/A;T snv 1.4E-05 0.700 1.000 3 2011 2017
dbSNP: rs1566537070
rs1566537070
MYH7
1 1.000 0.080 14 23431473 missense variant G/T snv 0.700 1.000 3 2011 2017
dbSNP: rs371564200
rs371564200
MYBPC3
1 1.000 0.080 11 47341207 missense variant C/G;T snv 3.1E-05; 1.3E-05 0.700 1.000 3 2008 2017
dbSNP: rs56851164
rs56851164
LMNA
1 1.000 0.080 1 156135940 missense variant T/A snv 5.6E-05 8.4E-05 0.700 1.000 3 2006 2014
dbSNP: rs730880702
rs730880702
MYBPC3
1 1.000 0.080 11 47332173 missense variant A/G snv 0.700 1.000 3 2010 2017
dbSNP: rs1131691685
rs1131691685
MYH7
1 1.000 0.080 14 23427672 missense variant G/A;C snv 0.700 1.000 2 2011 2017
dbSNP: rs1391541448
rs1391541448
DNAH8
1 1.000 0.080 6 38729980 missense variant G/A snv 0.020 1.000 2 2002 2003
dbSNP: rs1555337794
rs1555337794
MYH7
1 1.000 0.080 14 23425294 missense variant A/G snv 0.700 1.000 2 2011 2017
dbSNP: rs397515964
rs397515964
MYBPC3
1 1.000 0.080 11 47337543 missense variant C/A;G;T snv 8.0E-06; 1.2E-05 0.700 1.000 2 2016 2017
dbSNP: rs730880576
rs730880576
MYBPC3
1 1.000 0.080 11 47335199 stop gained C/T snv 0.700 1.000 2 2015 2017
dbSNP: rs730880664
rs730880664
MYBPC3
1 1.000 0.080 11 47351294 frameshift variant G/- del 0.700 1.000 2 2012 2014
dbSNP: rs730880781
rs730880781
MYH7 ; MIR208B
1 1.000 0.080 14 23419949 missense variant C/G;T snv 4.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs730880883
rs730880883
MYH7
1 1.000 0.080 14 23426809 missense variant C/T snv 0.700 1.000 2 2014 2017
dbSNP: rs1025692267
rs1025692267
MYBPC3
1 1.000 0.080 11 47343342 intron variant C/T snv 5.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs1060502823
rs1060502823
ACTC1 ; LOC101928174
1 1.000 0.080 15 34794747 missense variant G/A snv 0.010 1.000 1 2018 2018