ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Cutis Laxa ×
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: rs1064793880
rs1064793880 		1.000 0.080 7 74046755 missense variant C/T snv
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009