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: rs397516248
rs397516248
MYH7 ; MHRT
6 0.851 0.200 14 23415153 missense variant C/T snv 0.700 1.000 2 2009 2014
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: rs1060501439
rs1060501439
MYH7
4 0.925 0.080 14 23424938 missense variant T/A snv 0.700 0
dbSNP: rs1559598775
rs1559598775
TTN ; TTN-AS1
3 0.882 0.200 2 178592056 stop gained G/A snv 0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs587782927
rs587782927
DSP
4 0.882 0.080 6 7574084 splice region variant AG/- delins 0.700 0
dbSNP: rs587782961
rs587782961
MYH7
1 1.000 0.040 14 23430936 missense variant T/C snv 0.700 0
dbSNP: rs587782986
rs587782986
TTN ; TTN-AS1
1 1.000 0.040 2 178580401 frameshift variant TGTT/- delins 4.0E-06 0.700 0
dbSNP: rs606231324
rs606231324
MYH7
5 0.851 0.080 14 23428505 missense variant C/G;T snv 0.700 0
dbSNP: rs730880199
rs730880199
RYR2
2 0.925 0.080 1 237819167 missense variant T/G snv 0.700 0
dbSNP: rs760187215
rs760187215
MYH7
6 1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs869025523
rs869025523
SCN5A
1 1.000 0.040 3 38597813 frameshift variant -/CA delins 0.700 0
dbSNP: rs869025544
rs869025544
TTN ; TTN-AS1
1 1.000 0.040 2 178594134 stop gained C/T snv 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs1181773712
rs1181773712
ANK2
1 1.000 0.040 4 113274554 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1228479839
rs1228479839
DTNA
1 1.000 0.040 18 34879685 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1407311947
rs1407311947
ACTC1 ; LOC101928174
1 1.000 0.040 15 34794700 missense variant C/T snv 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs1487690122
rs1487690122
DTNA
1 1.000 0.040 18 34794051 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs186471205
rs186471205
MYH7B
1 1.000 0.040 20 34994243 missense variant C/T snv 1.0E-02 1.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs199476303
rs199476303
TPM1
1 1.000 0.040 15 63042938 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs3740343
rs3740343
LDB3
1 1.000 0.040 10 86679436 missense variant G/A snv 7.8E-03 2.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs730881120
rs730881120
TNNT2
1 1.000 0.040 1 201368162 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs749941468
rs749941468
MYL3
1 1.000 0.040 3 46863285 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs764018132
rs764018132
DTNA
1 1.000 0.040 18 34794168 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs766041336
rs766041336
TTN ; TTN-AS1
1 1.000 0.040 2 178770441 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017