FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Malar flattening ×
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: rs113871094
rs113871094 		0.683 0.320 15 48465820 stop gained G/A snv
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 0
dbSNP: rs1555395001
rs1555395001 		0.807 0.200 15 48434600 missense variant A/G snv
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 0
dbSNP: rs1566911709
rs1566911709 		0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 0
dbSNP: rs1566913974
rs1566913974 		0.807 0.200 15 48505029 missense variant A/C snv
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 0