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: rs28933384
rs28933384
1 1.000 0.080 21 34449615 missense variant G/A snv 4.0E-06 0.800 1.000 4 1997 2011
dbSNP: rs74315445
rs74315445
6 0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 0.800 1.000 4 1997 2011
dbSNP: rs199473353
rs199473353
1 1.000 0.080 21 34449496 missense variant C/A;T snv 2.8E-04 0.700 1.000 4 1997 2011
dbSNP: rs1244688796
rs1244688796
3 0.925 0.200 21 34449584 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs281865421
rs281865421
1 1.000 0.080 21 34449458 missense variant CAGGGT/AGGGGG mnv 0.700 0
dbSNP: rs758346045
rs758346045
3 1.000 0.080 21 34449497 stop gained G/A;T snv 2.0E-05; 8.0E-06 0.700 0
dbSNP: rs779124360
rs779124360
3 0.925 0.200 21 34449585 stop gained C/T snv 4.0E-06 0.700 0