Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs119103261
MFN2
0.882 0.080 1 12002014 missense variant G/C snv 3
rs121912496
LMNA
0.882 0.120 1 156134910 missense variant C/G;T snv 3
rs1554337974
GARS1
0.882 0.080 7 30609643 missense variant C/T snv 3
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv 3
rs267607554
LMNA
1.000 0.080 1 156135925 stop gained C/T snv 3
rs267607578
LMNA
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 3
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 3
rs57508089
LMNA
1.000 0.080 1 156136110 synonymous variant C/T snv 3
rs58013325
LMNA
1.000 0.080 1 156137144 frameshift variant -/C delins 3
rs59684335
LMNA
0.882 0.120 1 156135280 frameshift variant CT/- delins 3
rs59914820
LMNA
0.925 0.160 1 156115000 missense variant C/G;T snv 3
rs864309525
LMNA
0.925 0.120 1 156115007 inframe deletion GAG/- delins 3
rs1060502215
LMNA
0.925 0.120 1 156115040 missense variant G/A;T snv 2
rs1060502838
GARS1
0.925 0.080 7 30621448 missense variant A/G snv 2
rs1553261891
LMNA
0.925 0.120 1 156115012 missense variant A/G snv 2
rs1554338260
GARS1
0.925 0.080 7 30612214 missense variant A/T snv 2
rs1557522849
MFN2
0.925 0.080 1 11997319 missense variant C/T snv 2
rs267607573
LMNA
1.000 0.080 1 156134865 stop gained C/T snv 2
rs267607592
LMNA
1.000 0.080 1 156137233 splice donor variant G/A snv 2
rs267607599
LMNA
0.925 0.120 1 156136422 missense variant A/G;T snv 2
rs267607618
LMNA
1.000 0.080 1 156136350 stop gained C/T snv 2
rs267607637
LMNA
0.925 0.120 1 156136402 missense variant G/A snv 2
rs267607646
LMNA
1.000 0.080 1 156115265 frameshift variant -/G delins 2
rs397517888
LMNA
1.000 0.080 1 156136074 frameshift variant -/TGGA delins 2
rs58436778
LMNA
0.925 0.120 1 156115052 missense variant A/G snv 2