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: rs7173766
rs7173766
2 15 54711241 intergenic variant A/G snv 0.92 0.700 1.000 1 2010 2010
dbSNP: rs4841132
rs4841132
14 8 9326086 non coding transcript exon variant A/G snv 0.89 0.700 1.000 1 2012 2012
dbSNP: rs4799668
rs4799668
2 18 32836937 intron variant A/G snv 0.88 0.700 1.000 1 2010 2010
dbSNP: rs1516725
rs1516725
8 0.925 0.120 3 186106215 intron variant T/C snv 0.86 0.700 1.000 1 2013 2013
dbSNP: rs939583
rs939583
4 1.000 0.080 2 622531 intergenic variant C/T snv 0.85 0.700 1.000 1 2014 2014
dbSNP: rs6548238
rs6548238
10 0.882 0.200 2 634905 TF binding site variant T/C snv 0.85 0.700 1.000 1 2009 2009
dbSNP: rs2903492
rs2903492
3 2 624678 intergenic variant G/A snv 0.85 0.700 1.000 1 2013 2013
dbSNP: rs2867125
rs2867125
8 0.925 0.120 2 622827 intergenic variant T/A;C snv 0.85 0.800 1.000 3 2010 2015
dbSNP: rs2030323
rs2030323
6 0.925 0.080 11 27706992 intron variant A/C snv 0.83 0.700 1.000 2 2012 2013
dbSNP: rs10767664
rs10767664
16 0.752 0.400 11 27704439 intron variant T/A snv 0.83 0.700 1.000 2 2010 2013
dbSNP: rs9816226
rs9816226
5 1.000 0.080 3 186116710 intron variant A/T snv 0.82 0.700 1.000 2 2010 2013
dbSNP: rs308971
rs308971
3 3 12075120 intron variant G/A snv 0.82 0.800 1.000 2 2012 2012
dbSNP: rs4854344
rs4854344
6 1.000 0.080 2 638144 regulatory region variant G/T snv 0.82 0.700 1.000 1 2009 2009
dbSNP: rs10173167
rs10173167
2 2 646767 intergenic variant G/A snv 0.82 0.700 1.000 1 2009 2009
dbSNP: rs7561317
rs7561317
7 0.925 0.120 2 644953 intergenic variant A/G snv 0.81 0.700 1.000 2 2009 2009
dbSNP: rs13273088
rs13273088
3 8 69581739 intron variant G/A snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs10261878
rs10261878
3 7 25910925 intergenic variant A/C snv 0.80 0.700 1.000 1 2013 2013
dbSNP: rs2922763
rs2922763
3 8 75661476 intergenic variant G/T snv 0.77 0.700 1.000 1 2010 2010
dbSNP: rs1211166
rs1211166
2 9 84671077 intron variant G/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs4854348
rs4854348
2 2 647760 intergenic variant A/G snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs4854349
rs4854349
3 2 647861 intergenic variant T/C snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs10193244
rs10193244
2 2 647580 intergenic variant T/C snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs7570198
rs7570198
2 2 648198 intergenic variant C/T snv 0.76 0.700 1.000 1 2009 2009
dbSNP: rs255414
rs255414
3 5 63522073 intergenic variant G/A snv 0.76 0.700 1.000 1 2010 2010
dbSNP: rs2904880
rs2904880
5 1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76 0.700 1.000 1 2013 2013