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: rs376923877
rs376923877
TNNT2
1 1.000 0.040 1 201359637 missense variant G/A;T snv 8.9E-05 0.700 1.000 1 2013 2013
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: rs397516455
rs397516455
TNNT2
4 0.851 0.080 1 201365617 missense variant T/G snv 4.0E-06 7.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs45501500
rs45501500
TNNT2
2 0.925 0.040 1 201363390 missense variant C/T snv 0.010 1.000 1 2009 2009
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: 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: 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
dbSNP: rs61444459
rs61444459
LMNA
5 0.851 0.160 1 156137667 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs727502886
rs727502886
ACTN2
3 0.925 0.040 1 236719007 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs730881098
rs730881098
TNNT2
3 0.882 0.040 1 201365613 missense variant A/C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs730881109
rs730881109
TNNT2
1 1.000 0.040 1 201361322 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs746536347
rs746536347
ATAD3B
3 0.882 0.040 1 1490639 missense variant C/T snv 2.6E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs752427294
rs752427294
MARCKSL1
2 1.000 0.040 1 32335976 missense variant C/G snv 1.0E-05 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs755492182
rs755492182
ACTN2
3 0.882 0.080 1 236735677 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs779640835
rs779640835
RYR2
2 1.000 0.040 1 237566723 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs786204951
rs786204951
ACTN2
2 0.925 0.040 1 236753990 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs79023478
rs79023478
OBSCN
2 1.000 0.040 1 228315865 missense variant G/A snv 8.4E-03 3.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs868584399
rs868584399
MYBPH
1 1.000 0.040 1 203175396 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs990771026
rs990771026
TNNT2
1 1.000 0.040 1 201359647 missense variant T/C snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs672601334
rs672601334
RIT1
18 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
dbSNP: rs727504277
rs727504277
TNNT2
1 1.000 0.040 1 201365284 inframe deletion TCC/- delins 0.700 0
dbSNP: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs730881122
rs730881122
TNNT2
1 1.000 0.040 1 201365295 missense variant T/G snv 0.700 0