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: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.900 0.880 34 2002 2016
dbSNP: rs121913279
rs121913279
68 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.800 6 2004 2012
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.800 5 2004 2012
dbSNP: rs121913348
rs121913348
8 0.801 0.214 7 140781617 missense variant C/A,G,T snp 0.800 3 2002 2004
dbSNP: rs121913400
rs121913400
22 0.679 0.286 3 41224610 missense variant C/A,G,T snp 0.800 3 1997 1999
dbSNP: rs180177032
rs180177032
2 0.923 0.071 7 140781623 missense variant C/A snp 0.800 2 2002 2004
dbSNP: rs180177033
rs180177033
2 0.923 0.071 7 140781620 missense variant A/C snp 0.800 2 2002 2004
dbSNP: rs121913364
rs121913364
25 0.652 0.429 7 140753334 missense variant T/C,G snp 4.0E-06 0.800 1 2002 2002
dbSNP: rs137853148
rs137853148
2 0.923 0.071 8 17589479 missense variant C/T snp 0.800 1 1995 1995
dbSNP: rs34612342
rs34612342
20 0.692 0.179 1 45332803 missense variant T/C snp 1.5E-03 1.6E-03 0.710 1.000 6 1993 2016
dbSNP: rs36053993
rs36053993
20 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.710 1.000 6 2002 2016
dbSNP: rs587780078
rs587780078
4 0.878 0.107 1 45331514 frameshift variant T/TCC in-del 1.6E-04 3.2E-05 0.700 6 2005 2013
dbSNP: rs587783057
rs587783057
3 0.923 0.107 1 45331676 stop gained G/A snp 1.2E-05 0.700 6 2006 2009
dbSNP: rs587780088
rs587780088
3 0.923 0.107 1 45334493 stop gained G/A,C snp 8.0E-06; 4.0E-06 0.700 5 1993 2009
dbSNP: rs529008617
rs529008617
4 0.878 0.143 1 45331529 missense variant G/A snp 7.2E-05 6.4E-05 0.700 4 2006 2010
dbSNP: rs587778536
rs587778536
3 0.923 0.107 1 45331700 frameshift variant AG/A in-del 6.4E-05 6.4E-05 0.700 4 2006 2009
dbSNP: rs587781628
rs587781628
3 0.923 0.107 1 45331558 splice acceptor variant T/C snp 2.4E-05 3.2E-05 0.700 4 2004 2015
dbSNP: rs587782885
rs587782885
3 0.923 0.107 1 45332440 stop gained G/A,C snp 4.0E-06 0.700 4 2006 2009
dbSNP: rs63750006
rs63750006
3 0.878 0.143 2 47429920 stop gained C/A,T snp 5.5E-04; 4.0E-06 4.1E-04 0.700 4 1996 2005
dbSNP: rs1057519365
rs1057519365
5 0.846 0.286 17 61780931 frameshift variant ATT/A in-del 0.700 2 2015 2017
dbSNP: rs1057519366
rs1057519366
1 1.000 0.071 9 95150013 frameshift variant A/AG in-del 0.700 2 2015 2017
dbSNP: rs1057519367
rs1057519367
1 1.000 0.071 6 111405476 missense variant T/A snp 8.7E-06 0.700 2 2015 2017
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.700 2 2007 2011
dbSNP: rs121434595
rs121434595
19 0.692 0.357 1 114716124 missense variant C/A,G,T snp 0.700 2 1987 2009
dbSNP: rs121913274
rs121913274
33 0.626 0.286 3 179218304 missense variant A/C,G,T snp 0.700 2 2004 2007