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: 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: 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: 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: 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: 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: rs794728598
rs794728598
LMNA
1.000 0.080 1 156114921 start lost G/A;C;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2007 2011
dbSNP: rs1558115754
rs1558115754
LMNA
1.000 0.080 1 156114922 stop gained G/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs267607620
rs267607620
LMNA
0.925 0.120 1 156114929 missense variant C/G;T snv 6.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2009 2014
dbSNP: rs267607620
rs267607620
LMNA
0.925 0.120 1 156114929 missense variant C/G;T snv 6.0E-06
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs61046466
rs61046466
LMNA
1.000 0.120 1 156114934 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 1999 2000
dbSNP: rs61046466
rs61046466
LMNA
1.000 0.120 1 156114934 stop gained C/T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C0033300
Disease: Progeria
Progeria 		0.010 1.000 1 2018 2018
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		0.010 1.000 1 2018 2018
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.010 1.000 1 2018 2018
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.010 1.000 1 2018 2018
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.010 1.000 1 2008 2008
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.710 1.000 1 2008 2008
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.700 0
dbSNP: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 0
dbSNP: rs1553261855
rs1553261855
LMNA
1.000 0.080 1 156114968 frameshift variant -/TC delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2015 2015
dbSNP: rs1553261858
rs1553261858
LMNA
1.000 0.120 1 156114977 missense variant C/T snv
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.700 0
dbSNP: rs1558115970
rs1558115970
LMNA
1.000 0.080 1 156114989 frameshift variant C/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs58327533
rs58327533
LMNA
1.000 0.120 1 156114991 missense variant C/G;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2009 2009