Source: BEFREE ×
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
29 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
3 0.851 0.240 1 156115102 missense variant C/G;T snv 0.710 1.000 1 2002 2010
dbSNP: rs786205436
rs786205436
SDHD
3 0.882 0.080 11 112088972 missense variant A/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs104894201
rs104894201
CRYAB
10 0.763 0.280 11 111908934 missense variant T/C snv 0.060 1.000 6 2005 2019
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.050 0.800 5 2009 2019
dbSNP: rs121909298
rs121909298
SGCD
3 0.925 0.040 5 156595000 missense variant T/G snv 2.0E-04 1.3E-04 0.020 0.500 2 2009 2014
dbSNP: rs121913002
rs121913002
DES
5 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.020 1.000 2 2003 2008
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.020 1.000 2 2018 2020
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 < 0.001 2 1997 1999
dbSNP: rs143137713
rs143137713
GYG1
1 0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03 0.020 1.000 2 2017 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
230 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1998 2001
dbSNP: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.020 1.000 2 2010 2015
dbSNP: rs699
rs699
AGT
131 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 < 0.001 2 1997 1999
dbSNP: rs104893823
rs104893823
TNNC1
4 0.882 0.040 3 52451285 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs104894204
rs104894204
CSRP3
3 0.882 0.040 11 19188245 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs104894369
rs104894369
MYL2
8 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs104894724
rs104894724
TNNI3
7 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1056892
rs1056892
CBR3 ; CBR3-AS1
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1057518422
rs1057518422
TAB2
2 0.851 0.240 6 149378954 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1060500235
rs1060500235
TNNT2
1 1 201365657 missense variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs10927875
rs10927875
ZBTB17
2 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs113994099
rs113994099
POLG
8 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121908989
rs121908989
PRKAG2
3 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912557
rs121912557
MYO6
3 0.882 0.120 6 75857198 missense variant G/A snv 0.010 1.000 1 2008 2008