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: rs730880850
rs730880850
MYH7
3 0.882 0.040 14 23431584 splice donor variant C/T snv 4.0E-06 0.700 1.000 4 2008 2013
dbSNP: rs397516089
rs397516089
MYH7
6 0.827 0.080 14 23429807 missense variant C/G;T snv 0.700 1.000 3 2009 2015
dbSNP: rs730880856
rs730880856
MYH7
1 1.000 0.040 14 23430954 missense variant C/G;T snv 0.700 1.000 3 2007 2011
dbSNP: rs397516190
rs397516190
MYH7 ; MIR208B
2 0.925 0.080 14 23419911 inframe deletion CCT/- delins 0.700 1.000 2 2011 2013
dbSNP: rs606231324
rs606231324
MYH7
5 0.851 0.080 14 23428505 missense variant C/G;T snv 0.700 1.000 2 2012 2017
dbSNP: rs114638163
rs114638163
MIPEP
10 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs727503166
rs727503166
MYBPC3
5 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 1 2009 2009
dbSNP: rs727503249
rs727503249
MYH7 ; MIR208B
2 1.000 0.040 14 23419588 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs727504379
rs727504379
ACTC1 ; LOC101928174
2 1.000 0.040 15 34791238 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1566535410
rs1566535410
MYH7
5 0.851 0.080 14 23429297 missense variant T/C snv 0.700 0
dbSNP: rs201583907
rs201583907
LMNA
2 0.925 0.040 1 156137191 missense variant G/A;C snv 8.6E-05 0.700 0
dbSNP: rs386134243
rs386134243
LMNA
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs397517071
rs397517071
ACTC1 ; LOC101928174
2 1.000 0.040 15 34792092 missense variant A/G snv 0.700 0
dbSNP: rs573916965
rs573916965
MYBPC3
5 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.700 0
dbSNP: rs727503269
rs727503269
MYH7
3 0.882 0.040 14 23429329 missense variant T/C snv 0.700 0
dbSNP: rs727503741
rs727503741
VCL
2 1.000 0.040 10 74114349 stop gained C/T snv 0.700 0
dbSNP: rs730880336
rs730880336
MYBPC3
3 0.925 0.040 11 47346254 frameshift variant -/TGCCG delins 4.0E-06 0.700 0
dbSNP: rs7626962
rs7626962
SCN5A
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs104894941
rs104894941
DNASE1L1 ; TAZ
2 0.925 0.120 X 154412129 stop gained C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs121908338
rs121908338
LDB3
1 1.000 0.040 10 86687073 missense variant G/A;C snv 4.5E-03; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1420714074
rs1420714074
DMD
1 1.000 0.040 X 32491437 missense variant T/C snv 1.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs144842093
rs144842093
EMD
1 1.000 0.040 X 154381040 missense variant G/A snv 3.8E-05 3.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs145009013
rs145009013
SCN5A
1 1.000 0.040 3 38550409 missense variant A/C snv 2.4E-04 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs776656247
rs776656247
HCN4
1 1.000 0.040 15 73323661 missense variant C/A;T snv 2.2E-05; 2.2E-05 0.010 1.000 1 2018 2018