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: 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: 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: 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: 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: 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: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		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: 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: 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: 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: 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: 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: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.040 1.000 4 2000 2003
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.030 1.000 3 2000 2000
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 1.000 2 2000 2015
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2000 2013
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.020 1.000 2 2000 2000
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 1.000 2 2000 2015
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.010 1.000 1 2003 2003
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2000 2000
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		0.010 1.000 1 2013 2013