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: rs864321670
rs864321670
0.763 0.320 10 95633012 missense variant C/T snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.700 1.000 2 2015 2016
dbSNP: rs863225044
rs863225044
1.000 10 95637328 missense variant G/A snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.800 0
dbSNP: rs863225045
rs863225045
0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.800 0