Gene: SMAD6 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907283
rs387907283
SMAD6
1 1.000 15 66781495 missense variant G/A;T snv 4.7E-06; 4.7E-06 7.0E-06 0.800 0
dbSNP: rs387907284
rs387907284
SMAD6
1 1.000 15 66781288 missense variant C/G;T snv 8.6E-06 0.800 0
dbSNP: rs1246889300
rs1246889300
SMAD6
2 0.925 0.080 15 66703300 stop gained G/A;C;T snv 9.7E-06 0.700 0
dbSNP: rs1567092071
rs1567092071
SMAD6
2 0.925 0.080 15 66704052 frameshift variant A/- del 0.700 0