rs11575937, LMNA

N. diseases: 14
Source: INFERRED ×
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.
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.653 0.480 1 156136985 missense variant G/A;T snv 0.800 1.000 0 2000 2014
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
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
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 12 1991 2013
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 4 2000 2013
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
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
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
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Lethal tight skin contracture syndrome (disorder)
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Malouf syndrome
CUI: C0796031
Disease: Malouf syndrome
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
Progeria
CUI: C0033300
Disease: Progeria
0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0