FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: MARFAN LIPODYSTROPHY SYNDROME ×
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: rs398122832
rs398122832 		1.000 15 48412620 frameshift variant TTGGGGTAGCCATTGATCTT/- delins
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs876657410
rs876657410 		1.000 15 48412613 frameshift variant GCCCCGTT/- delins
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0