Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878853220
rs878853220
LMNA
0.827 0.200 1 156130818 intron variant T/G snv
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature 		0.700 1.000 1 2016 2016
dbSNP: rs60890628
rs60890628
LMNA
0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.010 1.000 1 2006 2006
dbSNP: rs1190613858
rs1190613858
LMNA
0.925 0.120 1 156139085 synonymous variant C/T snv 4.0E-06
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2012 2012
dbSNP: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2012 2012
dbSNP: rs267607591
rs267607591
LMNA
0.882 0.200 1 156135274 missense variant G/A snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.020 1.000 2 2014 2016
dbSNP: rs386134243
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs397517906
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs1114167345
rs1114167345
LMNA
1.000 0.080 1 156136037 missense variant A/G snv
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 0
dbSNP: rs727505038
rs727505038
LMNA
1.000 0.080 1 156115152 missense variant G/C;T snv
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 0
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 1.000 2 2013 2018
dbSNP: rs797044485
rs797044485
LMNA
0.851 0.160 1 156134832 missense variant G/A snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2013 2013
dbSNP: rs80356814
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2005 2005
dbSNP: rs60890628
rs60890628
LMNA
0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.010 1.000 1 2006 2006
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 1.000 2 2013 2018
dbSNP: rs797044485
rs797044485
LMNA
0.851 0.160 1 156134832 missense variant G/A snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2013 2013
dbSNP: rs80356814
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2005 2005
dbSNP: rs28933093
rs28933093
LMNA
0.882 0.160 1 156130741 missense variant G/A snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2003 2003
dbSNP: rs56793579
rs56793579
LMNA
0.851 0.240 1 156115102 missense variant C/G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2010 2010
dbSNP: rs58672172
rs58672172
LMNA
0.882 0.160 1 156136251 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2019 2019
dbSNP: rs58912633
rs58912633
LMNA
0.851 0.240 1 156130688 missense variant C/G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2008 2008
dbSNP: rs61672878
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2003 2003
dbSNP: rs57629361
rs57629361
LMNA
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.010 1.000 1 2012 2012
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.010 1.000 1 2020 2020
dbSNP: rs58850446
rs58850446
LMNA
0.925 0.200 1 156134908 missense variant T/C snv
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.010 1.000 1 2008 2008
dbSNP: rs267607619
rs267607619
LMNA
0.882 0.160 1 156130666 missense variant G/C snv
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.010 1.000 1 2015 2015