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: rs121908290
rs121908290
FIG4
1 1.000 0.080 6 109715168 missense variant G/T snv 0.800 1.000 1 2009 2009
dbSNP: rs121908287
rs121908287
FIG4
3 0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs150301327
rs150301327
FIG4
1 1.000 0.080 6 109785020 missense variant A/G snv 8.8E-05 7.7E-05 0.700 1.000 1 2017 2017
dbSNP: rs764717219
rs764717219
FIG4
3 0.882 0.120 6 109738435 frameshift variant G/- delins 3.2E-05 1.4E-05 0.700 1.000 1 2017 2017
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: rs776005417
rs776005417
FIG4
4 0.851 0.240 6 109738415 stop gained G/A snv 3.2E-05 2.2E-04 0.700 0