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: rs387906350
rs387906350
3 0.882 0.120 1 85267830 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs587776630
rs587776630
1 1.000 0.120 1 85270800 frameshift variant -/T delins 0.700 0
dbSNP: rs587776631
rs587776631
1 1.000 0.120 1 85270619 frameshift variant T/- delins 0.700 0
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.030 0.667 3 2013 2017
dbSNP: rs11797
rs11797
2 0.925 0.160 3 48467186 synonymous variant T/C snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs1494555
rs1494555
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs568408
rs568408
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs61756766
rs61756766
9 0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs928883
rs928883
3 0.882 0.160 21 25571713 intron variant A/G snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs9808753
rs9808753
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011