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: rs121908096
rs121908096
10 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.830 1.000 19 1991 2016
dbSNP: rs121908098
rs121908098
1 1.000 0.080 2 218814701 missense variant C/T snv 2.4E-05 7.0E-06 0.810 1.000 13 1991 2012
dbSNP: rs72551322
rs72551322
1 1.000 0.080 2 218814716 missense variant C/A;G;T snv 1.6E-05; 1.2E-05; 4.4E-05 0.810 1.000 11 1991 2016
dbSNP: rs121908097
rs121908097
1 1.000 0.080 2 218814702 missense variant G/A snv 1.6E-05 2.8E-05 0.810 1.000 6 1991 2002
dbSNP: rs121908099
rs121908099
1 1.000 0.080 2 218814409 missense variant G/A snv 4.0E-05 7.0E-06 0.800 1.000 14 1991 2018
dbSNP: rs72551313
rs72551313
1 1.000 0.080 2 218809755 missense variant G/A snv 0.800 1.000 5 1991 2002
dbSNP: rs121908102
rs121908102
1 1.000 0.080 2 218813095 missense variant C/T snv 8.1E-05; 4.0E-06 1.1E-04 0.700 1.000 9 1994 2016
dbSNP: rs201114717
rs201114717
1 1.000 0.080 2 218809700 missense variant C/G;T snv 4.0E-06; 6.8E-05 0.700 1.000 9 1996 2017
dbSNP: rs376230356
rs376230356
1 1.000 0.080 2 218809701 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 9 1996 2017
dbSNP: rs397515355
rs397515355
1 1.000 0.080 2 218814459 splice donor variant G/A;T snv 2.8E-05 0.700 1.000 7 1996 2017
dbSNP: rs573951598
rs573951598
3 0.882 0.200 2 218814408 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 6 2000 2012
dbSNP: rs587778818
rs587778818
1 1.000 0.080 2 218809731 missense variant G/A snv 3.6E-05 4.2E-05 0.700 1.000 5 1994 2018
dbSNP: rs587778777
rs587778777
1 1.000 0.080 2 218814188 splice donor variant G/A snv 1.6E-04 9.8E-05 0.700 1.000 4 1997 2016
dbSNP: rs72551317
rs72551317
1 1.000 0.080 2 218812681 missense variant A/G snv 1.6E-05 7.0E-06 0.700 1.000 4 2000 2013
dbSNP: rs765512351
rs765512351
1 1.000 0.080 2 218812300 frameshift variant G/- delins 0.700 1.000 4 1996 2015
dbSNP: rs1559391480
rs1559391480
1 1.000 0.080 2 218809719 stop gained G/A snv 0.700 1.000 3 2001 2011
dbSNP: rs397515353
rs397515353
1 1.000 0.080 2 218812923 splice acceptor variant G/A snv 6.4E-05 4.2E-05 0.700 1.000 3 1993 2016
dbSNP: rs397515354
rs397515354
1 1.000 0.080 2 218812750 splice donor variant G/A;C;T snv 8.0E-06; 4.0E-06 0.700 1.000 3 1999 2017
dbSNP: rs587778797
rs587778797
1 1.000 0.080 2 218809768 splice donor variant G/A;T snv 4.0E-06 0.700 1.000 3 2000 2015
dbSNP: rs72551312
rs72551312
1 1.000 0.080 2 218809730 missense variant C/A;T snv 4.4E-05 0.700 1.000 3 2010 2018
dbSNP: rs587778796
rs587778796
1 1.000 0.080 2 218809756 synonymous variant G/A;T snv 4.0E-06; 2.4E-05 0.700 1.000 2 1998 2018
dbSNP: rs72551318
rs72551318
1 1.000 0.080 2 218812713 stop gained C/G;T snv 1.2E-05; 2.0E-05 0.700 1.000 2 2013 2016
dbSNP: rs1178393503
rs1178393503
1 1.000 0.080 2 218814181 frameshift variant CT/- delins 1.4E-05 0.700 1.000 1 2001 2001
dbSNP: rs374507635
rs374507635
1 1.000 0.080 2 218815007 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs397515356
rs397515356
1 1.000 0.080 2 218813022 frameshift variant TGGCC/- delins 0.700 1.000 1 2002 2002