FBN1, fibrillin 1, 2200

N. diseases: 137; N. variants: 1044
Disease: Mitral Valve Prolapse Syndrome ×
Source: CLINVAR ×
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: rs1057518812
rs1057518812 		0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs112550005
rs112550005 		0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs113422242
rs113422242 		0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs113812345
rs113812345 		0.790 0.160 15 48513591 stop gained G/A snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555393889
rs1555393889 		0.851 0.200 15 48415758 missense variant T/A;C snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555395001
rs1555395001 		0.807 0.200 15 48434600 missense variant A/G snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555397413
rs1555397413 		0.732 0.280 15 48470705 missense variant T/C snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555398397
rs1555398397 		0.807 0.240 15 48485436 missense variant C/T snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs1566911709
rs1566911709 		0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs1566913974
rs1566913974 		0.807 0.200 15 48505029 missense variant A/C snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs397515804
rs397515804 		0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0