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: rs1131692231
rs1131692231
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
dbSNP: rs1555523841
rs1555523841
6 0.882 0.280 16 16223398 splice donor variant C/A snv 0.700 0
dbSNP: rs60791294
rs60791294
11 0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05 0.700 0
dbSNP: rs63750459
rs63750459
13 0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 0.700 0
dbSNP: rs63750759
rs63750759
11 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
dbSNP: rs63751241
rs63751241
12 0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs72653772
rs72653772
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs72653786
rs72653786
9 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
dbSNP: rs72653794
rs72653794
9 0.882 0.280 16 16177622 missense variant C/T snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs72664220
rs72664220
5 0.882 0.280 16 16157770 frameshift variant -/G delins 0.700 0
dbSNP: rs80359473
rs80359473
12 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs151340627
rs151340627
3 0.882 0.160 X 50086551 stop gained G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs151340624
rs151340624
4 0.851 0.120 X 50090846 stop gained C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs1801726
rs1801726
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2007 2007
dbSNP: rs756322971
rs756322971
9 0.763 0.240 3 122284955 missense variant C/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1373464667
rs1373464667
2 0.925 0.120 9 137232889 missense variant C/G;T snv 4.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs1014290
rs1014290
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.010 1.000 1 2010 2010
dbSNP: rs6449213
rs6449213
7 0.827 0.240 4 9992591 intron variant C/T snv 0.82 0.010 1.000 1 2010 2010
dbSNP: rs733175
rs733175
5 0.851 0.240 4 10048517 intron variant C/T snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs737267
rs737267
7 0.851 0.240 4 9933120 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs12313273
rs12313273
4 0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs17251221
rs17251221
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs6486795
rs6486795
2 0.925 0.120 12 121638011 intron variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs7135617
rs7135617
5 0.827 0.240 12 121631099 intron variant T/C;G snv 0.010 1.000 1 2011 2011