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: rs80356489
rs80356489
3 0.882 0.200 11 119028223 missense variant A/G snv 7.0E-06 0.810 1.000 21 1997 2014
dbSNP: rs121908978
rs121908978
1 1.000 0.080 11 119029287 missense variant C/T snv 1.2E-05 0.800 1.000 29 1997 2017
dbSNP: rs193302900
rs193302900
1 1.000 0.080 11 119026640 missense variant A/T snv 7.0E-06 0.800 1.000 24 1997 2011
dbSNP: rs80356490
rs80356490
1 1.000 0.080 11 119025299 missense variant C/A snv 7.8E-05 7.7E-05 0.800 1.000 24 1997 2014
dbSNP: rs121908980
rs121908980
1 1.000 0.080 11 119025298 missense variant C/T snv 0.800 1.000 20 1997 2011
dbSNP: rs193302882
rs193302882
1 1.000 0.080 11 119029288 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 8 1998 2014
dbSNP: rs193302881
rs193302881
1 1.000 0.080 11 119029311 missense variant C/G;T snv 1.6E-05 1.4E-05 0.800 1.000 5 1998 2014
dbSNP: rs193302888
rs193302888
1 1.000 0.080 11 119027681 missense variant G/A snv 0.800 1.000 5 2000 2008
dbSNP: rs193302883
rs193302883
1 1.000 0.080 11 119027806 missense variant C/T snv 1.4E-05 0.800 1.000 3 2002 2014
dbSNP: rs193302887
rs193302887
2 1.000 0.080 11 119029300 missense variant A/G snv 0.800 1.000 2 2002 2008
dbSNP: rs193302878
rs193302878
1 1.000 0.080 11 119026985 missense variant A/G snv 0.710 1.000 1 2009 2009
dbSNP: rs80356492
rs80356492
1 1.000 0.080 11 119025215 missense variant C/T snv 5.6E-05 2.1E-05 0.700 1.000 21 1997 2014
dbSNP: rs193302901
rs193302901
1 1.000 0.080 11 119025196 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 1.000 20 1997 2011
dbSNP: rs193302902
rs193302902
1 1.000 0.080 11 119027035 missense variant A/G snv 7.0E-06 0.700 1.000 20 1997 2011
dbSNP: rs193302903
rs193302903
1 1.000 0.080 11 119026052 missense variant C/T snv 0.700 1.000 20 1997 2011
dbSNP: rs80356491
rs80356491
3 0.925 0.080 11 119025271 frameshift variant AG/- del 1.7E-04 2.5E-04 0.700 1.000 10 1998 2017
dbSNP: rs781784543
rs781784543
1 1.000 0.080 11 119026979 stop gained G/A snv 2.4E-05 0.700 1.000 6 1998 2014
dbSNP: rs786204477
rs786204477
1 1.000 0.080 11 119026016 protein altering variant -/CCAGCCATCATG delins 4.2E-06 7.0E-06 0.700 1.000 5 1998 2014
dbSNP: rs121908976
rs121908976
2 0.925 0.080 11 119028288 stop gained C/T snv 8.4E-06 0.700 1.000 4 1998 2005
dbSNP: rs786204740
rs786204740
1 1.000 0.080 11 119029369 start lost T/C snv 4.1E-06 7.0E-06 0.700 1.000 4 1999 2004
dbSNP: rs551439289
rs551439289
1 1.000 0.080 11 119027069 stop gained G/A snv 8.1E-06 7.0E-06 0.700 1.000 3 1998 2010
dbSNP: rs1182102272
rs1182102272
1 1.000 0.080 11 119028215 frameshift variant -/G delins 8.8E-06 1.4E-05 0.700 1.000 2 2000 2000
dbSNP: rs782630676
rs782630676
1 1.000 0.080 11 119025190 splice donor variant C/A;G snv 1.2E-05 0.700 1.000 2 1998 2000
dbSNP: rs1474282972
rs1474282972
1 1.000 0.080 11 119027658 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1555191406
rs1555191406
1 1.000 0.080 11 119027873 splice acceptor variant C/- del 0.700 1.000 1 2009 2009