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: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.780 1.000 8 2001 2019
dbSNP: rs56793579
rs56793579
LMNA
5 0.851 0.240 1 156115102 missense variant C/G;T snv 0.710 1.000 3 2002 2010
dbSNP: rs786205436
rs786205436
SDHD
5 0.882 0.080 11 112088972 missense variant A/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs397516373
rs397516373
TPM1
4 0.925 0.080 15 63059663 missense variant G/A snv 0.700 1.000 5 2016 2018
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
4 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 0.700 1.000 3 2006 2013
dbSNP: rs267606976
rs267606976
PRKAG2
2 1.000 0.080 7 151564203 missense variant A/G snv 0.700 1.000 2 2005 2014
dbSNP: rs1024095026
rs1024095026
ABCC9
1 12 21887879 stop gained G/A snv 1.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs114638163
rs114638163
MIPEP
10 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs121912998
rs121912998
DSP ; LOC101928076
3 1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs730880092
rs730880092
DSP
1 6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05 0.700 1.000 1 2010 2010
dbSNP: rs769139957
rs769139957
ALPK3
1 15 84840691 frameshift variant C/-;CC delins 0.700 1.000 1 2017 2017
dbSNP: rs869125101
rs869125101
LMNA
2 1.000 0.080 1 156134529 splice donor variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs104894727
rs104894727
TNNI3
4 0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057518905
rs1057518905
DPM3
3 1 155140104 missense variant A/T snv 0.700 0
dbSNP: rs1057519457
rs1057519457
SCN1B
1 19 35033599 missense variant A/T snv 0.700 0
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
4 0.925 0.040 6 118558946 missense variant C/T snv 0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
dbSNP: rs121908987
rs121908987
PRKAG2
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121913628
rs121913628
MYH7
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 0
dbSNP: rs121918070
rs121918070
TTR
2 1.000 0.120 18 31595157 missense variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1242465339
rs1242465339
UQCRFS1
3 1.000 0.080 19 29207763 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs141735183
rs141735183
MYH7
1 14 23420222 stop gained C/A snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs1425855043
rs1425855043
PKP2
2 1.000 0.080 12 32878105 stop gained C/A snv 0.700 0
dbSNP: rs148515772
rs148515772
EMD
1 X 154380902 missense variant G/A snv 8.2E-05 8.5E-05 0.700 0