rs11575937, LMNA

N. diseases: 29
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
108 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 12 1991 2013
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
19 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 12 1991 2013
Familial Partial Lipodystrophy, Type 2
23 0.653 0.480 1 156136985 missense variant G/A;T snv 0.800 1.000 11 2000 2014
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
16 0.653 0.480 1 156136985 missense variant G/A;T snv 0.100 1.000 10 2000 2020
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
28 0.653 0.480 1 156136985 missense variant G/A;T snv 0.050 1.000 5 2000 2018
Hereditary Motor and Sensory-Neuropathy Type II
144 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 4 2000 2013
Partial lipodystrophy
CUI: C4316789
Disease: Partial lipodystrophy
11 0.653 0.480 1 156136985 missense variant G/A;T snv 0.040 1.000 4 2000 2003
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
64 0.653 0.480 1 156136985 missense variant G/A;T snv 0.030 1.000 3 2000 2000
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2015
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2015
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
184 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2000
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2013
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
2 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2013 2013
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
83 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2013 2013
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
169 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2000 2000
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2003 2003
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2015 2015
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
363 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2008 2008
Pulmonary Fibrosis
CUI: C0034069
Disease: Pulmonary Fibrosis
25 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2009 2009
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Charcot-Marie-Tooth disease, Type 2B1
6 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Emery-Dreifuss Muscular Dystrophy 3
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
4 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Heart-hand syndrome, Slovenian type
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
3 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Lethal tight skin contracture syndrome (disorder)
10 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0