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: rs121908287
rs121908287
FIG4
3 0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03 0.820 1.000 8 2007 2018
dbSNP: rs587777714
rs587777714
FIG4
1 1.000 0.080 6 109743137 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 3 2007 2011
dbSNP: rs587777713
rs587777713
FIG4 ; AK9
1 1.000 0.080 6 109691485 missense variant T/C snv 2.1E-05 0.700 1.000 3 2007 2011
dbSNP: rs745790694
rs745790694
FIG4
1 1.000 0.080 6 109796772 stop gained C/T snv 2.4E-05 1.4E-05 0.700 1.000 2 2011 2013
dbSNP: rs377357931
rs377357931
FIG4
2 1.000 0.080 6 109760253 stop gained C/T snv 3.6E-05 8.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs121908288
rs121908288
FIG4
2 0.925 0.120 6 109735199 stop gained C/A;T snv 8.0E-06; 2.8E-05 0.700 0
dbSNP: rs1368013631
rs1368013631
FIG4
1 1.000 0.080 6 109743678 frameshift variant ATCAGGCA/- del 7.0E-06 0.700 0
dbSNP: rs1562648373
rs1562648373
FIG4
1 1.000 0.080 6 109727110 frameshift variant T/- delins 0.700 0
dbSNP: rs587777715
rs587777715
FIG4
1 1.000 0.080 6 109727107 splice acceptor variant A/T snv 1.2E-05 0.700 0
dbSNP: rs764717219
rs764717219
FIG4
3 0.882 0.120 6 109738435 frameshift variant G/- delins 3.2E-05 1.4E-05 0.700 0
dbSNP: rs776005417
rs776005417
FIG4
4 0.851 0.240 6 109738415 stop gained G/A snv 3.2E-05 2.2E-04 0.700 0