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: rs10462023
rs10462023
1 2 238275940 intron variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1655285
rs1655285
1 1 231563728 intron variant G/C snv 9.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs2789588
rs2789588
1 6 72433995 intergenic variant A/C snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs4583255
rs4583255
1 16 29977620 intron variant A/G snv 0.36 0.700 1.000 1 2014 2014
dbSNP: rs12155594
rs12155594
2 1.000 0.040 8 31749079 intron variant C/T snv 7.8E-02 0.020 1.000 2 2013 2018
dbSNP: rs4281084
rs4281084
2 1.000 0.040 8 31637858 upstream gene variant G/A snv 0.22 0.020 1.000 2 2013 2018
dbSNP: rs1009080
rs1009080
2 1 29958713 intergenic variant G/A snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs10496702
rs10496702
2 2 133247997 intron variant G/A snv 0.18 0.800 1.000 1 2010 2010
dbSNP: rs10949808
rs10949808
2 7 156255955 intergenic variant T/G snv 0.45 0.800 1.000 1 2010 2010
dbSNP: rs11164835
rs11164835
2 1 92913536 intron variant G/A snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs1126442
rs1126442
2 1.000 0.040 9 137156924 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2013 2013
dbSNP: rs11740562
rs11740562
2 5 157515277 intron variant A/G snv 7.1E-02 0.800 1.000 1 2010 2010
dbSNP: rs11789407
rs11789407
2 9 118597268 intergenic variant C/A snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs12105421
rs12105421
2 1.000 0.040 2 102959630 intron variant C/T snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs12196860
rs12196860
2 1.000 0.040 6 56085576 intron variant G/A snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs12282742
rs12282742
2 11 18244252 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs12527359
rs12527359
2 6 89018502 intergenic variant T/A snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs12745968
rs12745968
2 1 92936280 intron variant A/G snv 0.36 0.800 1.000 1 2010 2010
dbSNP: rs1341402
rs1341402
2 1.000 0.040 13 105463160 intron variant T/C snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs17069122
rs17069122
2 6 108002555 downstream gene variant G/A snv 1.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs17075286
rs17075286
2 3 43189231 intergenic variant C/G snv 5.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs1806864
rs1806864
2 9 87416754 regulatory region variant G/C snv 7.4E-02 0.800 1.000 1 2010 2010
dbSNP: rs1893490
rs1893490
2 1.000 0.040 18 50669431 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1959536
rs1959536
2 1.000 0.040 14 50980053 intron variant T/G snv 9.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs1992044
rs1992044
2 8 57928349 intron variant G/A;T snv 0.700 1.000 1 2010 2010