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: rs137854508
rs137854508
NCF2 ; SMG7
1 1.000 0.120 1 183573189 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 11 1994 2014
dbSNP: rs137854507
rs137854507
NCF2 ; SMG7
1 1.000 0.120 1 183577686 missense variant G/C snv 4.0E-06 0.700 1.000 10 1994 2013
dbSNP: rs137854509
rs137854509
NCF2 ; SMG7
1 1.000 0.120 1 183577642 missense variant T/A snv 0.700 1.000 10 1994 2013
dbSNP: rs137854510
rs137854510
NCF2 ; SMG7
1 1.000 0.120 1 183590200 missense variant C/A;G snv 0.700 1.000 10 1994 2013
dbSNP: rs137854514
rs137854514
NCF2 ; SMG7
1 1.000 0.120 1 183590205 missense variant T/C snv 0.700 1.000 10 1994 2013
dbSNP: rs137854515
rs137854515
NCF2 ; SMG7
1 1.000 0.120 1 183577660 missense variant C/A;G;T snv 8.0E-06; 2.4E-05 0.700 1.000 10 1994 2013
dbSNP: rs137854516
rs137854516
NCF2 ; SMG7
1 1.000 0.120 1 183574579 missense variant A/C;T snv 4.0E-06 0.700 1.000 10 1994 2013
dbSNP: rs137854517
rs137854517
NCF2 ; SMG7
1 1.000 0.120 1 183573289 missense variant G/C snv 0.700 1.000 10 1994 2013
dbSNP: rs137854518
rs137854518
NCF2 ; SMG7
1 1.000 0.120 1 183573243 missense variant C/G snv 1.2E-05 0.700 1.000 10 1994 2013
dbSNP: rs137854519
rs137854519
NCF2 ; SMG7
1 1.000 0.120 1 183586919 missense variant C/T snv 0.700 1.000 10 1994 2013
dbSNP: rs137854520
rs137854520
NCF2 ; SMG7
1 1.000 0.120 1 183574569 missense variant G/A;T snv 0.700 1.000 10 1994 2013
dbSNP: rs796065033
rs796065033
NCF2 ; SMG7
1 1.000 0.120 1 183590267 inframe deletion TTCTTGTCC/- delins 4.0E-06 1.4E-05 0.700 1.000 3 1999 2008
dbSNP: rs1558092897
rs1558092897
NCF2 ; SMG7
1 1.000 0.120 1 183564004 splice donor variant C/G snv 0.700 1.000 2 1999 2010
dbSNP: rs119103274
rs119103274
NCF2 ; SMG7
2 1.000 0.120 1 183574605 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs119103275
rs119103275
NCF2 ; SMG7
1 1.000 0.120 1 183586922 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs119103276
rs119103276
NCF2 ; SMG7
1 1.000 0.120 1 183577667 stop gained G/A;C;T snv 1.1E-03; 4.0E-06 0.700 0
dbSNP: rs1290169467
rs1290169467
NCF2 ; SMG7
1 1.000 0.120 1 183590290 frameshift variant C/- delins 7.0E-06 0.700 0
dbSNP: rs1558098982
rs1558098982
NCF2 ; SMG7
1 1.000 0.120 1 183574506 frameshift variant T/- delins 0.700 0
dbSNP: rs374402066
rs374402066
NCF2 ; SMG7
1 1.000 0.120 1 183577661 stop gained G/A snv 3.6E-05 2.1E-05 0.700 0
dbSNP: rs777621636
rs777621636
NCF2 ; SMG7
1 1.000 0.120 1 183566940 frameshift variant G/- delins 1.2E-05 7.0E-06 0.700 0
dbSNP: rs796065030
rs796065030
NCF2 ; SMG7
1 1.000 0.120 1 183574587 frameshift variant -/CT delins 0.700 0
dbSNP: rs796065031
rs796065031
NCF2 ; SMG7
1 1.000 0.120 1 183563437 frameshift variant CTTAG/- delins 0.700 0
dbSNP: rs796065032
rs796065032
NCF2 ; SMG7
1 1.000 0.120 1 183577598 splice donor variant C/G;T snv 4.0E-06 0.700 0