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: rs104894942
rs104894942
DNASE1L1 ; TAZ
2 1.000 0.120 X 154413248 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913627
rs121913627
MYH7
8 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913630
rs121913630
MYH7
7 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1266360671
rs1266360671
RYR2
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1298494952
rs1298494952
TTN
2 1.000 0.040 2 178789994 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1332805343
rs1332805343
RYR2
1 1 237496705 missense variant G/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1368507241
rs1368507241
DES
2 1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs137973321
rs137973321
NEBL ; LOC102725112
2 1.000 0.040 10 20868744 missense variant C/T snv 2.1E-03 2.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs138592977
rs138592977
LMNA
3 1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2012 2012
dbSNP: rs1393297693
rs1393297693
SRF
3 1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1407369744
rs1407369744
ACTN2
2 1.000 0.080 1 236739384 missense variant T/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1436282251
rs1436282251
FOXD4
1 9 117678 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs145734640
rs145734640
MYH7 ; MHRT
3 0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs146275785
rs146275785
NEBL
3 0.925 0.040 10 20828531 missense variant G/A;T snv 7.2E-05; 2.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs150821281
rs150821281
PKP2
7 0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2002 2002
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
dbSNP: rs199473000
rs199473000
KCNH2
2 1.000 0.120 7 150949031 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs199473076
rs199473076
SCN5A
3 0.925 0.120 3 38609950 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs199473153
rs199473153
SCN5A
4 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs199476301
rs199476301
TPM1
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199476314
rs199476314
TPM1
4 0.882 0.040 15 63060930 missense variant T/G snv 0.010 1.000 1 2005 2005