ELN, elastin, 2006

N. diseases: 24; N. variants: 42
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 ×
Source: CURATED ×
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: rs727503030
rs727503030 		0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05
CUI: C3276539
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1
CUTIS LAXA, AUTOSOMAL DOMINANT 1 		0.700 0