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: rs104894505
rs104894505
TPM1
4 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2017
dbSNP: rs1212453165
rs1212453165
TPM1
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2017
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.030 1.000 3 2010 2016
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.030 1.000 3 2008 2017
dbSNP: rs60682848
rs60682848
LMNA
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.030 1.000 3 2007 2020
dbSNP: rs61295588
rs61295588
LMNA
2 0.925 0.160 1 156134809 missense variant T/C snv 0.700 1.000 3 2013 2017
dbSNP: rs1057515421
rs1057515421
LMNA
2 0.925 0.120 1 156136284 stop gained C/T snv 0.700 1.000 2 1999 2016
dbSNP: rs10927875
rs10927875
ZBTB17
3 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.020 1.000 2 2011 2013
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 0.500 2 1997 2007
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.020 1.000 2 2012 2012
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.020 1.000 2 2002 2012
dbSNP: rs199476301
rs199476301
TPM1
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs199476317
rs199476317
TPM1
6 0.827 0.080 15 63062263 missense variant G/A snv 0.020 1.000 2 2010 2017
dbSNP: rs3729547
rs3729547
TNNT2
1 1.000 0.040 1 201365254 missense variant G/A;C snv 0.72 0.020 1.000 2 2013 2015
dbSNP: rs3729843
rs3729843
TNNT2
2 0.925 0.040 1 201367856 intron variant C/A;G;T snv 1.8E-04; 0.42 0.020 1.000 2 2013 2014
dbSNP: rs61672878
rs61672878
LMNA
11 0.776 0.200 1 156136094 missense variant G/A;T snv 0.020 1.000 2 2003 2003
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 0.500 2 1997 2007
dbSNP: rs74315379
rs74315379
TNNT2
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.020 1.000 2 2003 2016
dbSNP: rs74315380
rs74315380
TNNT2
5 0.851 0.080 1 201364366 missense variant G/A;C snv 0.020 1.000 2 2003 2016
dbSNP: rs761056344
rs761056344
PLN ; CEP85L
3 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.020 1.000 2 2015 2018
dbSNP: rs878855296
rs878855296
SCN5A
2 0.925 0.080 3 38613790 missense variant C/T snv 7.0E-06 0.020 1.000 2 2012 2018
dbSNP: rs1009977
rs1009977
LGALS3
2 1.000 0.040 14 55136284 intron variant T/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs1071646
rs1071646
TPM1
1 1.000 0.040 15 63059641 splice region variant C/A snv 0.67 0.65 0.010 1.000 1 2015 2015
dbSNP: rs10880
rs10880
LTBP4
2 0.925 0.160 19 40622404 missense variant C/T snv 0.38 0.39 0.010 1.000 1 2015 2015
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2009 2009