Source: BEFREE ×
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: rs146795390
rs146795390
7 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3087386
rs3087386
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs3087399
rs3087399
4 0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 0.010 1.000 1 2008 2008
dbSNP: rs3136038
rs3136038
13 0.763 0.200 16 13919522 upstream gene variant C/T snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs372043866
rs372043866
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs16969968
rs16969968
34 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2009 2009
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs750749
rs750749
1 6 14141866 downstream gene variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs9370729
rs9370729
1 6 14138061 downstream gene variant C/T snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2010
dbSNP: rs577715207
rs577715207
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
dbSNP: rs1227480017
rs1227480017
1 2 10122697 synonymous variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1454328441
rs1454328441
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs2072671
rs2072671
CDA
14 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2010 2010
dbSNP: rs402710
rs402710
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 1.000 1 2010 2010
dbSNP: rs6465657
rs6465657
4 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 0.010 1.000 1 2010 2010
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs10937405
rs10937405
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs16906252
rs16906252
17 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs17429138
rs17429138
1 3 189527804 intergenic variant A/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs3660
rs3660
6 0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs4396880
rs4396880
1 3 189638432 intron variant G/A snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs79184941
rs79184941
27 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2011 2011