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: rs1060501915
rs1060501915
MFN2
1 1.000 0.080 1 11998842 frameshift variant TGGTGGC/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1060501917
rs1060501917
MFN2
1 1.000 0.080 1 12011512 missense variant T/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1060501925
rs1060501925
MFN2
1 1.000 0.080 1 12011511 missense variant G/T snv 0.700 0
dbSNP: rs1060502211
rs1060502211
LMNA
1 1.000 0.080 1 156135952 stop gained G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1060502214
rs1060502214
LMNA
1 1.000 0.080 1 156136082 missense variant T/G snv 0.700 0
dbSNP: rs1060502215
rs1060502215
LMNA
2 0.925 0.120 1 156115040 missense variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1060502838
rs1060502838
GARS1
2 0.925 0.080 7 30621448 missense variant A/G snv 0.700 1.000 2 2005 2014
dbSNP: rs1060502839
rs1060502839
GARS1
1 1.000 0.080 7 30628565 missense variant G/A snv 0.700 0
dbSNP: rs1064793170
rs1064793170
MFN2
1 1.000 0.080 1 12002025 missense variant A/C;G snv 0.700 0
dbSNP: rs1064795123
rs1064795123
GARS1
1 1.000 0.080 7 30609724 missense variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 4 2000 2013
dbSNP: rs119103261
rs119103261
MFN2
3 0.882 0.080 1 12002014 missense variant G/C snv 0.700 0
dbSNP: rs119103262
rs119103262
MFN2
1 1.000 0.080 1 11997315 missense variant C/G;T snv 0.700 1.000 6 2006 2016
dbSNP: rs119103263
rs119103263
MFN2
19 0.827 0.240 1 11992659 missense variant C/T snv 0.700 1.000 10 2004 2016
dbSNP: rs119103265
rs119103265
MFN2
5 0.827 0.120 1 12002033 missense variant C/T snv 0.700 1.000 10 2006 2017
dbSNP: rs119103267
rs119103267
MFN2
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.700 1.000 9 1976 2017
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.700 1.000 11 2008 2015
dbSNP: rs121912496
rs121912496
LMNA
3 0.882 0.120 1 156134910 missense variant C/G;T snv 0.700 1.000 8 2008 2015
dbSNP: rs121913598
rs121913598
MPZ
5 0.851 0.080 1 161307361 missense variant G/A snv 0.010 < 0.001 1 1998 1998
dbSNP: rs1228406418
rs1228406418
LMNA
1 1.000 0.080 1 156115009 missense variant G/A snv 0.700 1.000 4 2012 2017
dbSNP: rs1340894696
rs1340894696
LMNA
1 1.000 0.080 1 156136083 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1350009895
rs1350009895
HSPB3
1 1.000 0.080 5 54456141 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs137852643
rs137852643
GARS1
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.700 1.000 6 2006 2016
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.700 1.000 12 2004 2015
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.710 1.000 7 2004 2016