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: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
dbSNP: rs1165819867
rs1165819867
LMNA
1 1.000 0.040 1 156134892 missense variant G/A;T snv 0.700 0
dbSNP: rs1553265180
rs1553265180
LMNA
1 1.000 0.040 1 156134500 missense variant T/A;G snv 0.700 0
dbSNP: rs1553265736
rs1553265736
LMNA
4 0.925 0.040 1 156136080 missense variant G/C snv 0.700 0
dbSNP: rs1553265739
rs1553265739
LMNA
1 1.000 0.040 1 156136081 missense variant A/T snv 0.700 0
dbSNP: rs1553974835
rs1553974835
HAND2 ; HAND2-AS1
2 1.000 0.040 4 173529091 stop gained C/A snv 0.700 0
dbSNP: rs267607581
rs267607581
LMNA
4 0.925 0.080 1 156137651 splice region variant C/G snv 0.700 0
dbSNP: rs28928900
rs28928900
LMNA
2 0.925 0.120 1 156115096 missense variant C/G;T snv 0.800 0
dbSNP: rs386134243
rs386134243
LMNA
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs397517889
rs397517889
LMNA
3 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs56771886
rs56771886
LMNA
2 0.925 0.160 1 156135923 frameshift variant T/- delins 0.700 0
dbSNP: rs57077886
rs57077886
LMNA
9 0.776 0.240 1 156114947 missense variant C/T snv 0.700 0
dbSNP: rs58362413
rs58362413
LMNA
2 0.925 0.160 1 156137183 stop gained G/A;C snv 0.700 0
dbSNP: rs58672172
rs58672172
LMNA
3 0.882 0.160 1 156136251 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs59332535
rs59332535
LMNA
5 0.827 0.160 1 156134911 missense variant G/A snv 0.700 0
dbSNP: rs59684335
rs59684335
LMNA
3 0.882 0.120 1 156135280 frameshift variant CT/- delins 0.700 0
dbSNP: rs60890628
rs60890628
LMNA
9 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.800 0
dbSNP: rs730882262
rs730882262
LMNA
4 0.851 0.160 1 156135293 missense variant T/C;G snv 0.700 0
dbSNP: rs863224899
rs863224899
MYBPC3
2 0.925 0.080 11 47337580 splice acceptor variant C/T snv 0.700 0
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2013 2013
dbSNP: rs3740346
rs3740346
LDB3
1 1.000 0.040 10 86692112 intron variant G/C snv 0.19 0.14 0.010 < 0.001 1 2020 2020
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 1997 1997
dbSNP: rs56165849
rs56165849
LDB3
1 1.000 0.040 10 86681952 intron variant A/G snv 0.50 0.010 < 0.001 1 2020 2020
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: 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