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: rs12910984
rs12910984
CHRNA3
8 0.827 0.080 15 78599285 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs660652
rs660652
CHRNA3 ; CHRNA5
3 1.000 0.080 15 78595490 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs77010898
rs77010898
CFTR
13 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs886905373
rs886905373
SERPINA3
3 0.925 0.120 14 94614481 missense variant G/A snv 2.8E-05 0.010 1.000 1 1999 1999