LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Malouf syndrome ×
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: rs58922911
rs58922911 		0.925 0.320 1 156115094 missense variant T/G snv
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.800 1.000 3 2003 2009
dbSNP: rs28928903
rs28928903 		0.925 0.240 1 156115087 missense variant G/A;C snv
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs11575937
rs11575937 		0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386134243
rs386134243 		0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0