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: rs104894121
rs104894121
1 1.000 0.080 9 91724247 stop gained C/T snv 0.700 0
dbSNP: rs104894122
rs104894122
1 1.000 0.080 9 91724248 stop gained C/T snv 0.700 0
dbSNP: rs121909082
rs121909082
1 1.000 0.080 9 91724229 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs863223289
rs863223289
1 1.000 0.080 9 91724245 frameshift variant C/- delins 0.700 0
dbSNP: rs863223290
rs863223290
2 0.925 0.080 9 91726602 frameshift variant GCCGC/- delins 0.700 0
dbSNP: rs863223292
rs863223292
1 1.000 0.080 9 91724250 frameshift variant G/- delins 0.700 0
dbSNP: rs199566527
rs199566527
NOG
3 0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 0.010 1.000 1 2012 2012
dbSNP: rs28937580
rs28937580
NOG
4 0.851 0.080 17 56594326 missense variant C/G;T snv 0.010 1.000 1 2008 2008