FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: OVERLAP CONNECTIVE TISSUE DISEASE ×
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: rs1566903931
rs1566903931 		1.000 0.120 15 48465619 missense variant AC/CA mnv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs111401431
rs111401431 		0.763 0.200 15 48468097 missense variant G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs111984349
rs111984349 		0.763 0.200 15 48415759 missense variant C/T snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1131692049
rs1131692049 		1.000 0.120 15 48463168 frameshift variant -/GAAT delins
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs113543334
rs113543334 		0.763 0.200 15 48432944 missense variant A/G snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs113871094
rs113871094 		0.683 0.320 15 48465820 stop gained G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137854475
rs137854475 		0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137854480
rs137854480 		0.742 0.200 15 48537629 missense variant G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs140583
rs140583 		0.763 0.200 15 48495219 stop gained G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555397413
rs1555397413 		0.732 0.280 15 48470705 missense variant T/C snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555397718
rs1555397718 		0.776 0.200 15 48474566 missense variant C/A;T snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555400373
rs1555400373 		0.763 0.200 15 48515393 missense variant A/G snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1566899590
rs1566899590 		0.776 0.200 15 48448894 splice acceptor variant C/T snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1566911709
rs1566911709 		0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1566911957
rs1566911957 		0.776 0.200 15 48496204 frameshift variant GTACACATTCA/- delins
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs193922185
rs193922185 		0.752 0.200 15 48505037 missense variant G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs193922204
rs193922204 		0.763 0.200 15 48468542 splice region variant C/T snv 4.0E-06 7.0E-06
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs193922228
rs193922228 		0.763 0.200 15 48430736 missense variant A/G snv 7.0E-06
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515757
rs397515757 		0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs71467648
rs71467648 		0.776 0.200 15 48437898 stop gained A/C;T snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727503054
rs727503054 		0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727503057
rs727503057 		0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730880099
rs730880099 		0.742 0.200 15 48510125 missense variant G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs794728195
rs794728195 		0.752 0.200 15 48495155 missense variant G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs794728208
rs794728208 		0.776 0.200 15 48485374 missense variant C/T snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0