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: rs1057156731
rs1057156731
LMNA
0.925 0.120 1 156137730 missense variant T/A snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2016 2016
dbSNP: rs1057156731
rs1057156731
LMNA
0.925 0.120 1 156137730 missense variant T/A snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2016 2016
dbSNP: rs1057156731
rs1057156731
LMNA
0.925 0.120 1 156137730 missense variant T/A snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.010 1.000 1 2016 2016
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
dbSNP: rs1057518971
rs1057518971
LMNA
1.000 0.120 1 156115048 missense variant G/T snv
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.700 0
dbSNP: rs1060502211
rs1060502211
LMNA
1.000 0.080 1 156135952 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 1 2013 2013
dbSNP: rs1060502214
rs1060502214
LMNA
1.000 0.080 1 156136082 missense variant T/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1060502215
rs1060502215
LMNA
0.925 0.120 1 156115040 missense variant 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 1 2010 2010
dbSNP: rs1060502215
rs1060502215
LMNA
0.925 0.120 1 156115040 missense variant G/A;T snv
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.700 0
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: 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: rs111569862
rs111569862
LMNA
1 156137653 splice acceptor variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2008 2016
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: rs113436208
rs113436208
LMNA
0.925 0.160 1 156138758 splice donor variant G/A;C snv
CUI: C0033300
Disease: Progeria
Progeria 		0.700 1.000 1 2007 2007
dbSNP: rs113436208
rs113436208
LMNA
0.925 0.160 1 156138758 splice donor variant G/A;C snv
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs113860699
rs113860699
LMNA
1.000 0.080 1 156138759 splice donor variant T/A;C;G snv
CUI: C0033300
Disease: Progeria
Progeria 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 12 1991 2013
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 1.000 12 1991 2013
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 1.000 11 2000 2014
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.100 1.000 10 2000 2020
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.050 1.000 5 2000 2018
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant 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 2000 2013
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.040 1.000 4 2000 2003