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: rs10737170
rs10737170
LMNA
1.000 0.040 1 156094089 intron variant C/A snv 0.90
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 1.000 1 2014 2014
dbSNP: rs112941217
rs112941217
LMNA
0.925 0.160 1 156087626 intron variant T/C snv 2.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2019 2019
dbSNP: rs112941217
rs112941217
LMNA
0.925 0.160 1 156087626 intron variant T/C snv 2.7E-02
CUI: C0349782
Disease: Ischemic cardiomyopathy
Ischemic cardiomyopathy 		0.700 1.000 1 2019 2019
dbSNP: rs11578696
rs11578696
LMNA
1.000 0.080 1 156087177 intron variant A/G snv 8.4E-02
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2007 2007
dbSNP: rs577492
rs577492
LMNA
1.000 0.120 1 156130948 intron variant T/C snv 0.22
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2007 2007
dbSNP: rs584025
rs584025
LMNA
1 156118735 intron variant C/T snv 0.13
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7542186
rs7542186
LMNA
1 156091431 intron variant G/C;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
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: rs878853220
rs878853220
LMNA
0.827 0.200 1 156130818 intron variant T/G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs878853220
rs878853220
LMNA
0.827 0.200 1 156130818 intron variant T/G snv
CUI: C0264906
Disease: Second degree atrioventricular block
Second degree atrioventricular block 		0.700 1.000 1 2016 2016
dbSNP: rs878853220
rs878853220
LMNA
0.827 0.200 1 156130818 intron variant T/G snv
CUI: C0079035
Disease: Bradyarrhythmia (disorder)
Bradyarrhythmia (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs878853220
rs878853220
LMNA
0.827 0.200 1 156130818 intron variant T/G snv
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		0.700 1.000 1 2016 2016
dbSNP: rs878853220
rs878853220
LMNA
0.827 0.200 1 156130818 intron variant T/G snv
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		0.700 1.000 1 2016 2016
dbSNP: rs955383
rs955383
LMNA
1.000 0.080 1 156112239 intron variant G/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2007 2007
dbSNP: rs56816490
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 17 1999 2012
dbSNP: rs60458016
rs60458016
LMNA
0.827 0.120 1 156136036 stop gained G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 8 2000 2014
dbSNP: rs267607554
rs267607554
LMNA
1.000 0.080 1 156135925 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 6 2006 2014
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 6 2001 2020
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 1990 2014
dbSNP: rs56816490
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 4 2002 2017
dbSNP: rs267607573
rs267607573
LMNA
1.000 0.080 1 156134865 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 3 2008 2017
dbSNP: rs56816490
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2002 2009
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.030 1.000 3 2007 2020
dbSNP: rs1057515421
rs1057515421
LMNA
0.925 0.120 1 156136284 stop gained C/T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 1.000 2 1999 2016
dbSNP: rs1057515421
rs1057515421
LMNA
0.925 0.120 1 156136284 stop gained C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.020 1.000 2 2003 2008