FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Hyperextensible skin ×
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: rs112550005
rs112550005 		0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0
dbSNP: rs137854466
rs137854466 		0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0
dbSNP: rs1555398397
rs1555398397 		0.807 0.240 15 48485436 missense variant C/T snv
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0