Gene: LMNA ×
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: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs59065411
rs59065411
LMNA
1 1.000 0.040 1 156115207 missense variant A/G snv 0.700 1.000 17 1999 2012
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: rs28933092
rs28933092
LMNA
2 1.000 0.040 1 156134497 missense variant A/G;T snv 0.800 1.000 17 1999 2012
dbSNP: rs1553265739
rs1553265739
LMNA
1 1.000 0.040 1 156136081 missense variant A/T snv 0.700 0
dbSNP: rs28933091
rs28933091
LMNA
4 0.882 0.160 1 156134474 missense variant C/A;G snv 0.800 1.000 20 1999 2017
dbSNP: rs56984562
rs56984562
LMNA
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.810 1.000 24 1999 2017
dbSNP: rs142000963
rs142000963
LMNA
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs386134243
rs386134243
LMNA
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 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: rs59026483
rs59026483
LMNA
7 0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 0.710 0.944 18 1999 2012
dbSNP: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 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: 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: rs1057515421
rs1057515421
LMNA
2 0.925 0.120 1 156136284 stop gained C/T snv 0.700 1.000 2 1999 2016
dbSNP: rs397517907
rs397517907
LMNA
2 0.925 0.080 1 156134914 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs4641
rs4641
LMNA
6 0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21 0.010 1.000 1 2015 2015
dbSNP: rs760318158
rs760318158
LMNA
1 1.000 0.040 1 156126897 missense variant C/T snv 2.3E-04 6.3E-05 0.010 1.000 1 2015 2015
dbSNP: rs775964460
rs775964460
LMNA
1 1.000 0.040 1 156134883 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397517889
rs397517889
LMNA
3 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs57077886
rs57077886
LMNA
9 0.776 0.240 1 156114947 missense variant C/T 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: 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: rs59684335
rs59684335
LMNA
3 0.882 0.120 1 156135280 frameshift variant CT/- delins 0.700 0