SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Disease: AORTIC VALVE DISEASE 2 ×
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: rs387907283
rs387907283 		1.000 15 66781495 missense variant G/A;T snv 4.7E-06; 4.7E-06 7.0E-06
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.800 0
dbSNP: rs387907284
rs387907284 		1.000 15 66781288 missense variant C/G;T snv 8.6E-06
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.800 0
dbSNP: rs1246889300
rs1246889300 		0.925 0.080 15 66703300 stop gained G/A;C;T snv 9.7E-06
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 0
dbSNP: rs1567092071
rs1567092071 		0.925 0.080 15 66704052 frameshift variant A/- del
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 0