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: rs886043118
rs886043118
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs1426488816
rs1426488816
9 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
7 0.925 0.160 10 89007698 splice acceptor variant A/G snv 0.700 0
dbSNP: rs397518423
rs397518423
10 0.790 0.240 1 9726972 missense variant G/A snv 0.700 0
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014