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: rs747522089
rs747522089
TNNI3
1 1.000 0.040 19 55154820 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1060501436
rs1060501436
MYH7
2 0.925 0.040 14 23424815 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1064793206
rs1064793206
MYH7
2 0.925 0.040 14 23424993 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1199713333
rs1199713333
CACNA1C
2 0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs148395034
rs148395034
TRIM63
2 0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs1489940065
rs1489940065
MYH7
2 0.925 0.040 14 23433188 missense variant G/A snv 2.8E-05 7.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs199476322
rs199476322
TPM1
2 0.925 0.040 15 63064141 missense variant A/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs376477806
rs376477806
MYBPC1 ; LOC105369937
2 0.925 0.040 12 101648107 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs397516406
rs397516406
MYL2
2 0.925 0.040 12 110911093 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs45501500
rs45501500
TNNT2
2 0.925 0.040 1 201363390 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs730880751
rs730880751
MYH7
2 0.925 0.040 14 23424816 missense variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs730881082
rs730881082
TNNI3
2 0.925 0.040 19 55151850 missense variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs751224055
rs751224055
CACNA1C
2 0.925 0.040 12 2674574 missense variant C/A;T snv 5.2E-06; 5.2E-06 0.010 1.000 1 2018 2018
dbSNP: rs759589565
rs759589565
TXNRD1
2 0.925 0.040 12 104321227 missense variant A/G snv 4.0E-05 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs77615401
rs77615401
TNNI3
2 0.925 0.040 19 55156239 missense variant G/A snv 1.4E-03 6.8E-03 0.010 1.000 1 2008 2008
dbSNP: rs778924100
rs778924100
TXNRD1
2 0.925 0.040 12 104318981 stop gained C/G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs779782995
rs779782995
HDAC9
2 0.925 0.040 7 18590438 missense variant A/G snv 1.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs267607128
rs267607128
TNNI3
3 0.882 0.040 19 55157097 missense variant G/A snv 0.020 1.000 2 2012 2015
dbSNP: rs1057517105
rs1057517105
GAA
3 0.882 0.160 17 80112655 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs121913634
rs121913634
MYH7
3 0.882 0.080 14 23425372 missense variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs121913652
rs121913652
MYH7 ; MHRT
3 0.882 0.080 14 23414015 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1352376969
rs1352376969
MYBPC3
3 0.882 0.080 11 47341155 missense variant G/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs1412710023
rs1412710023
MYBPC3
3 0.925 0.040 11 47343549 missense variant T/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs143697995
rs143697995
MRPL44
3 0.882 0.040 2 223959821 missense variant T/C;G snv 5.6E-05; 2.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs1467607281
rs1467607281
OPA1
3 0.882 0.040 3 193645736 missense variant T/C snv 2.1E-05 0.010 1.000 1 2016 2016