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: rs59301204
rs59301204
LMNA
4 0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs61444459
rs61444459
LMNA
5 0.851 0.160 1 156137667 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs6660685
rs6660685
CLCNKA ; HSPB7
1 1.000 0.040 1 16020493 intron variant A/G snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs727503512
rs727503512
TNNT2
5 0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs730881098
rs730881098
TNNT2
3 0.882 0.040 1 201365613 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs730881106
rs730881106
TNNT2
1 1.000 0.040 1 201362016 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs7523558
rs7523558
CLCNKA ; HSPB7
1 1.000 0.040 1 16020237 splice region variant G/A snv 6.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs759758840
rs759758840
TNNT2
1 1.000 0.040 1 201365198 missense variant T/A;C snv 4.0E-06 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: rs778730615
rs778730615
TNNT2
1 1.000 0.040 1 201368194 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs984218824
rs984218824
TNNT2
1 1.000 0.040 1 201364324 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
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: 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