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: 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
dbSNP: rs10889160
rs10889160
1 1.000 0.080 1 59896449 intron variant T/C snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs1135402763
rs1135402763
1 1.000 0.080 2 21032540 missense variant T/C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs1151640
rs1151640
1 1.000 0.080 1 247672648 missense variant T/C snv 0.46 0.36 0.010 1.000 1 2011 2011
dbSNP: rs11574915
rs11574915
1 1.000 0.080 9 34710087 5 prime UTR variant A/C;G snv 0.13; 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs11666735
rs11666735
1 1.000 0.080 19 54885501 missense variant G/A snv 6.9E-02 6.6E-02 0.010 1.000 1 2006 2006
dbSNP: rs12027041
rs12027041
1 1.000 0.080 1 3674884 intron variant G/C snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs12118721
rs12118721
1 1.000 0.080 1 154424940 intron variant T/C snv 0.51 0.700 1.000 1 2015 2015
dbSNP: rs12363415
rs12363415
1 1.000 0.080 11 13377061 intron variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs12510359
rs12510359
1 1.000 0.080 4 168756241 non coding transcript exon variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1275147925
rs1275147925
1 1.000 0.080 19 44906613 missense variant A/G snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1276663775
rs1276663775
1 1.000 0.080 20 23879610 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs13051704
rs13051704
1 1.000 0.080 21 42366262 intron variant G/C snv 8.0E-02 0.700 1.000 1 2011 2011