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: rs3729842
rs3729842
TNNT2
1 1.000 0.040 1 201368042 intron variant A/G snv 0.84 0.010 1.000 1 2012 2012
dbSNP: rs3729843
rs3729843
TNNT2
2 0.925 0.040 1 201367856 intron variant C/A;G;T snv 1.8E-04; 0.42 0.010 1.000 1 2012 2012
dbSNP: rs373792537
rs373792537
MYBPC3
1 1.000 0.040 11 47337467 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs376344575
rs376344575
NDUFAF1
2 0.925 0.040 15 41394885 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.8E-05 0.010 1.000 1 2011 2011
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: rs377334933
rs377334933
TRIM63
1 1.000 0.040 1 26061277 missense variant G/C snv 4.8E-05 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs387906898
rs387906898
JPH2
2 0.925 0.040 20 44160293 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs387906958
rs387906958
NDUFAF1
2 0.925 0.040 15 41394987 missense variant G/A snv 3.2E-05 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs397507550
rs397507550
PTPN11
3 0.882 0.160 12 112489106 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs397514616
rs397514616
TNNC1
4 0.851 0.120 3 52452217 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs397515871
rs397515871
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.040 X 101407834 missense variant A/T snv 0.010 1.000 1 2012 2012
dbSNP: rs397515985
rs397515985
MYBPC3
3 0.882 0.040 11 47335886 missense variant G/T snv 1.3E-04 2.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs397516030
rs397516030
MYBPC3
1 1.000 0.040 11 47332569 frameshift variant G/-;GG delins 0.010 1.000 1 2017 2017
dbSNP: rs397516117
rs397516117
MYH7
1 1.000 0.040 14 23433572 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs397516130
rs397516130
MYH7
3 0.882 0.080 14 23426033 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs45501500
rs45501500
TNNT2
2 0.925 0.040 1 201363390 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs45580333
rs45580333
HLA-B ; HLA-C
1 1.000 0.040 6 31271262 missense variant C/A;G;T snv 4.0E-06 1.5E-05 0.010 1.000 1 1997 1997
dbSNP: rs45586240
rs45586240
TNNT2
7 0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs5182
rs5182
AGTR1
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs561901401
rs561901401
MUC2 ; LOC107987157
2 1.000 0.040 11 1074959 non coding transcript exon variant G/C;T snv 1.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs56657623
rs56657623
LMNA
5 0.827 0.120 1 156138540 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs570903247
rs570903247
FHL2
1 1.000 0.040 2 105363414 missense variant C/A;T snv 1.1E-04; 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs587782951
rs587782951
JPH2
6 0.807 0.080 20 44160305 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs60890628
rs60890628
LMNA
9 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2017 2017