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: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs199474714
rs199474714
TPM3
4 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs750174047
rs750174047
DNAH8
3 1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs201573646
rs201573646
MAD2L1BP
2 6 43640526 missense variant G/A snv 1.0E-04 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs1114167445
rs1114167445
SPTBN4
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs117184249
rs117184249
SYNE1
3 1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs1356874787
rs1356874787
PANK2 ; PANK2-AS1
2 20 3889103 start lost G/A snv 6.7E-06 0.010 1.000 1 2017 2017
dbSNP: rs1373219981
rs1373219981
ATP13A2
2 1 17011736 start lost C/A snv 1.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs1405183655
rs1405183655
FA2H
2 16 74719132 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs369447743
rs369447743
METTL8 ; DCAF17
2 2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs57965306
rs57965306
DES
6 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs746673818
rs746673818
COASY
2 17 42562625 start lost G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs764492939
rs764492939
COASY
2 17 42562414 start lost G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs764959600
rs764959600
PLA2G6
3 1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2017 2017
dbSNP: rs1373863123
rs1373863123
ACTB
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs61672878
rs61672878
LMNA
11 0.776 0.200 1 156136094 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121908893
rs121908893
SLC22A5
3 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs397514677
rs397514677
STIM1
6 0.851 0.400 11 4023928 missense variant A/G snv 0.010 1.000 1 2014 2014