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: rs1866389
rs1866389
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.050 0.800 5 2002 2019
dbSNP: rs2569512
rs2569512
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.740 1.000 4 2011 2011
dbSNP: rs10738607
rs10738607
4 0.925 0.080 9 22088095 intron variant A/G snv 0.42 0.810 1.000 3 2007 2018
dbSNP: rs12632110
rs12632110
3 1.000 0.080 3 50186792 intron variant A/G snv 0.63 0.62 0.030 1.000 3 2009 2010
dbSNP: rs5629
rs5629
3 0.925 0.080 20 49513169 stop gained G/A;T snv 4.0E-06; 0.25 0.030 0.667 3 2002 2009
dbSNP: rs771676129
rs771676129
7 0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 0.030 0.667 3 1999 2001
dbSNP: rs9982601
rs9982601
4 0.851 0.080 21 34226827 intron variant C/T snv 0.15 0.820 1.000 3 2009 2016
dbSNP: rs999947969
rs999947969
7 0.827 0.080 7 80671145 synonymous variant C/T snv 0.030 0.667 3 1999 2001
dbSNP: rs121918529
rs121918529
3 0.882 0.080 15 99690400 missense variant C/T snv 6.1E-04 6.5E-04 0.020 0.500 2 2006 2008
dbSNP: rs4804611
rs4804611
2 0.925 0.080 19 11617987 3 prime UTR variant A/G snv 0.24 0.020 1.000 2 2008 2011
dbSNP: rs6046
rs6046
F7
5 0.925 0.080 13 113118845 missense variant G/A;C;T snv 0.13 0.020 1.000 2 2009 2018
dbSNP: rs761646500
rs761646500
3 0.925 0.080 6 169237763 missense variant C/G snv 4.0E-06 0.020 1.000 2 2002 2019
dbSNP: rs10013040
rs10013040
1 1.000 0.080 4 177309998 synonymous variant C/A snv 0.20 0.20 0.010 < 0.001 1 2015 2015
dbSNP: rs1008563
rs1008563
1 1.000 0.080 2 218162165 downstream gene variant G/A snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs10176176
rs10176176
1 1.000 0.080 2 85534925 upstream gene variant A/T snv 0.54 0.700 1.000 1 2015 2015
dbSNP: rs10263017
rs10263017
1 1.000 0.080 7 6026173 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10281500
rs10281500
1 1.000 0.080 7 55475197 intron variant C/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1045274
rs1045274
1 1.000 0.080 16 580902 synonymous variant C/G;T snv 0.16; 2.0E-05 0.700 1.000 1 2011 2011
dbSNP: rs104895285
rs104895285
1 1.000 0.080 12 6330873 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1049636
rs1049636
FGG
1 1.000 0.080 4 154604818 3 prime UTR variant G/A snv 0.67 0.70 0.010 1.000 1 2007 2007
dbSNP: rs1050998
rs1050998
1 1.000 0.080 17 4735442 missense variant A/G snv 0.46 0.41 0.010 1.000 1 2017 2017
dbSNP: rs10518325
rs10518325
1 1.000 0.080 4 118796479 intron variant A/G snv 6.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs1058932
rs1058932
1 1.000 0.080 10 95037104 3 prime UTR variant G/A snv 0.22 0.24 0.010 1.000 1 2010 2010
dbSNP: rs10788952
rs10788952
1 1.000 0.080 1 53272428 non coding transcript exon variant C/T snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs10838532
rs10838532
1 1.000 0.080 11 45925913 intron variant G/C snv 0.18 0.700 1.000 1 2011 2011