LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Progeria ×
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: rs797044488
rs797044488 		0.925 0.080 1 156138762 splice region variant G/A;C snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs797045011
rs797045011 		0.925 0.160 1 156135314 splice donor variant T/C snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267607649
rs267607649 		1.000 0.080 1 156130672 missense variant G/A snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 10 2003 2013
dbSNP: rs267607547
rs267607547 		1.000 0.080 1 156137664 missense variant T/C snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 2 2006 2014
dbSNP: rs59886214
rs59886214 		1.000 0.080 1 156138610 splice region variant G/A snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 2 2007 2012
dbSNP: rs1553266460
rs1553266460 		1.000 0.080 1 156138483 splice donor variant GCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAACCCAGG/- delins
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2004 2004
dbSNP: rs61064130
rs61064130 		1.000 0.080 1 156138611 missense variant G/A;T snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs797044486
rs797044486 		1.000 0.080 1 156138560 missense variant T/A snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs113860699
rs113860699 		1.000 0.080 1 156138759 splice donor variant T/A;C;G snv
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0