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: rs374926367
rs374926367
LMNA
1 156139089 missense variant A/G snv 1.2E-04 1.0E-04
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.010 1.000 1 2017 2017
dbSNP: rs1190613858
rs1190613858
LMNA
0.925 0.120 1 156139085 synonymous variant C/T snv 4.0E-06
CUI: C0033300
Disease: Progeria
Progeria 		0.060 1.000 6 2011 2016
dbSNP: rs1190613858
rs1190613858
LMNA
0.925 0.120 1 156139085 synonymous variant C/T snv 4.0E-06
CUI: C0423773
Disease: Scaly skin
Scaly skin 		0.010 1.000 1 2014 2014
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: rs797044488
rs797044488
LMNA
0.925 0.080 1 156138762 splice region variant G/A;C snv
CUI: C0033300
Disease: Progeria
Progeria 		0.700 1.000 1 2011 2011
dbSNP: rs797044488
rs797044488
LMNA
0.925 0.080 1 156138762 splice region variant G/A;C snv
CUI: C4016241
Disease: HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL 		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: 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: rs797044487
rs797044487
LMNA
0.925 0.080 1 156138757 splice region variant G/A snv
CUI: C0033300
Disease: Progeria
Progeria 		0.700 1.000 1 2011 2011
dbSNP: rs797044487
rs797044487
LMNA
0.925 0.080 1 156138757 splice region variant G/A snv
CUI: C4016241
Disease: HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL 		0.700 0
dbSNP: rs863225024
rs863225024
LMNA
1.000 0.080 1 156138749 frameshift variant -/G delins
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.700 1.000 2 2007 2011
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 2 2008 2014
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0033300
Disease: Progeria
Progeria 		0.710 1.000 1 2008 2008
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2012 2012
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2008 2008
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2012 2012
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2008 2008
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.010 1.000 1 2008 2008
dbSNP: rs142000963
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs144851946
rs144851946
LMNA
1 156138701 missense variant G/A;T snv 1.4E-04; 4.0E-06
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.010 1.000 1 2017 2017
dbSNP: rs80356814
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.020 0.500 2 2004 2011
dbSNP: rs80356814
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 0.500 2 2002 2005
dbSNP: rs80356814
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.020 0.500 2 2002 2005
dbSNP: rs80356814
rs80356814
LMNA
0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2005 2005