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: rs28928900
rs28928900
LMNA
0.925 0.120 1 156115096 missense variant C/G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 0
dbSNP: rs28928900
rs28928900
LMNA
0.925 0.120 1 156115096 missense variant C/G;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs28928903
rs28928903
LMNA
0.925 0.240 1 156115087 missense variant G/A;C snv
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.800 0
dbSNP: rs56793579
rs56793579
LMNA
0.851 0.240 1 156115102 missense variant C/G;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs59981161
rs59981161
LMNA
1.000 0.080 1 156136998 missense variant G/C;T snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs60864230
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs60890628
rs60890628
LMNA
0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
dbSNP: rs60890628
rs60890628
LMNA
0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 0
dbSNP: rs61214927
rs61214927
LMNA
1.000 0.080 1 156134853 missense variant G/A snv
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 0
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: 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: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		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: 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: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T 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: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0