LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Mandibuloacral dysostosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57520892
rs57520892 		0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 3 2002 2006
dbSNP: rs60580541
rs60580541 		1.000 0.120 1 156137210 missense variant C/T snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 1 2005 2005
dbSNP: rs60890628
rs60890628 		0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 1 2006 2006
dbSNP: rs57318642
rs57318642 		0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.710 1.000 1 2008 2008
dbSNP: rs11575937
rs11575937 		0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121912494
rs121912494 		1.000 0.120 1 156137209 missense variant G/A snv 4.7E-06
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs386134243
rs386134243 		0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs56673169
rs56673169 		0.925 0.160 1 156137671 missense variant G/C snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1385994420
rs1385994420 		1.000 0.120 1 156136342 missense variant G/A snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs28928902
rs28928902 		0.851 0.160 1 156136951 missense variant C/G;T snv 1.2E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs58850446
rs58850446 		0.925 0.200 1 156134908 missense variant T/C snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs58922911
rs58922911 		0.925 0.320 1 156115094 missense variant T/G snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2007 2007
dbSNP: rs60652225
rs60652225 		0.851 0.200 1 156130679 missense variant T/C;G snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2007 2007