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: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.720 1.000 18 1999 2012
dbSNP: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.720 1.000 18 1999 2019
dbSNP: rs201583907
rs201583907
LMNA
2 0.925 0.040 1 156137191 missense variant G/A;C snv 8.6E-05 0.700 1.000 17 1999 2012
dbSNP: rs267607560
rs267607560
LMNA
2 0.925 0.040 1 156115192 missense variant C/T snv 7.0E-06 0.700 1.000 17 1999 2012
dbSNP: rs267607568
rs267607568
LMNA
1 1.000 0.040 1 156115220 missense variant G/A;C;T snv 4.1E-06 0.700 1.000 17 1999 2012
dbSNP: rs267607572
rs267607572
LMNA
1 1.000 0.040 1 156134518 missense variant T/G snv 0.700 1.000 17 1999 2012
dbSNP: rs267607574
rs267607574
LMNA
1 1.000 0.040 1 156135916 missense variant G/A snv 1.6E-05 1.4E-05 0.700 1.000 17 1999 2012
dbSNP: rs28933092
rs28933092
LMNA
2 1.000 0.040 1 156134497 missense variant A/G;T snv 0.800 1.000 17 1999 2012
dbSNP: rs58789393
rs58789393
LMNA
1 1.000 0.040 1 156136010 missense variant G/A;T snv 4.0E-06 0.700 1.000 17 1999 2012
dbSNP: rs59065411
rs59065411
LMNA
1 1.000 0.040 1 156115207 missense variant A/G snv 0.700 1.000 17 1999 2012
dbSNP: rs104893823
rs104893823
TNNC1
5 0.882 0.040 3 52451285 missense variant C/T snv 0.040 1.000 4 2007 2016
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2013
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: rs758264780
rs758264780
TPM1
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.040 1.000 4 2005 2013
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: 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: 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: 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: 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: rs111033559
rs111033559
PLN ; CEP85L
4 0.925 0.040 6 118558946 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs11570113
rs11570113
MYBPC3
1 1.000 0.040 11 47333605 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs1175271580
rs1175271580
LMOD2
1 1.000 0.040 7 123662780 stop gained G/A;T snv 0.010 1.000 1 2019 2019