FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
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: rs28939370
rs28939370
0.882 0.120 14 91887253 missense variant A/G snv
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.040 1.000 4 2002 2010
dbSNP: rs80338766
rs80338766
0.882 0.120 14 91887283 missense variant A/G snv
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.030 1.000 3 2006 2010
dbSNP: rs121434303
rs121434303
0.882 0.120 14 91870336 missense variant C/T snv
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2010
dbSNP: rs149396611
rs149396611
0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2010
dbSNP: rs80338765
rs80338765
0.925 0.080 14 91891236 missense variant C/T snv 2.8E-04 1.2E-04
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010