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: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.800 1.000 1 2007 2007
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs121913535
rs121913535
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.720 1.000 2 2017 2018
dbSNP: rs104894366
rs104894366
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 3 2006 2014
dbSNP: rs730880471
rs730880471
4 0.851 0.280 12 25225709 missense variant C/T snv 0.700 0
dbSNP: rs121913080
rs121913080
FAS
3 0.882 0.160 10 89014191 missense variant G/C snv 0.700 1.000 3 1999 2011
dbSNP: rs17860403
rs17860403
3 0.882 0.160 2 201208114 missense variant C/T snv 2.4E-05 2.0E-04 0.700 0
dbSNP: rs1564696849
rs1564696849
FAS
2 0.925 0.160 10 89012082 splice donor variant G/A snv 0.700 1.000 3 2000 2012
dbSNP: rs80358239
rs80358239
2 0.925 0.160 2 201209363 missense variant A/C;T snv 4.5E-03 0.700 0
dbSNP: rs1564699214
rs1564699214
FAS
1 1.000 0.160 10 89014196 frameshift variant A/- delins 0.700 1.000 3 1999 2013
dbSNP: rs1564686301
rs1564686301
FAS
1 1.000 0.160 10 89003108 stop gained T/A snv 0.700 0
dbSNP: rs587776450
rs587776450
1 1.000 0.160 1 172659460 frameshift variant T/- delins 0.700 0