LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Heart-hand syndrome, Slovenian type ×
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: rs11575937
rs11575937 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267607582
rs267607582 		1.000 0.120 1 156137642 non coding transcript exon variant T/C;G snv
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0