SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Disease: LOEYS-DIETZ SYNDROME 3 ×
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: rs387906851
rs387906851 		1.000 15 67181364 missense variant C/T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.800 1.000 6 2011 2017
dbSNP: rs387906852
rs387906852 		1.000 15 67181418 missense variant G/A snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.800 1.000 6 2011 2017
dbSNP: rs387906850
rs387906850 		0.925 15 67181441 missense variant C/T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.800 1.000 2 2011 2011
dbSNP: rs387906853
rs387906853 		0.925 0.040 15 67181297 stop gained G/A;T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.800 1.000 2 2011 2011
dbSNP: rs387906854
rs387906854 		1.000 15 67165023 missense variant C/T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 1.000 6 2011 2017
dbSNP: rs387906856
rs387906856 		1.000 15 67187436 stop gained G/A;C;T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 0
dbSNP: rs587776880
rs587776880 		1.000 15 67181323 frameshift variant AT/- del
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 0
dbSNP: rs587776881
rs587776881 		1.000 15 67170598 frameshift variant A/- delins
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 0
dbSNP: rs587776882
rs587776882 		1.000 15 67164999 frameshift variant G/- delins
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.700 0