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: rs7953249
rs7953249
4 0.882 0.160 12 120965921 splice region variant G/A snv 0.59 0.800 1.000 5 2012 2019
dbSNP: rs16842559
rs16842559
1 1 159706381 upstream gene variant T/C snv 5.6E-02 0.800 1.000 4 2012 2019
dbSNP: rs2027471
rs2027471
1 1 159719598 intergenic variant T/A snv 0.32 0.700 1.000 4 2012 2014
dbSNP: rs2259816
rs2259816
8 0.827 0.280 12 120997784 synonymous variant G/A;T snv 6.7E-06; 0.40 0.800 1.000 4 2012 2019
dbSNP: rs2808628
rs2808628
2 1 159706221 upstream gene variant G/A snv 0.31 0.700 1.000 4 2012 2014
dbSNP: rs2808629
rs2808629
3 0.925 0.160 1 159707006 upstream gene variant G/A snv 0.31 0.700 1.000 4 2012 2014
dbSNP: rs7305618
rs7305618
3 0.925 0.160 12 120965129 intron variant C/T snv 0.28 0.800 1.000 4 2012 2019
dbSNP: rs876537
rs876537
3 1.000 0.080 1 159705143 non coding transcript exon variant C/T snv 0.34 0.800 1.000 4 2012 2019
dbSNP: rs10494326
rs10494326
1 1 159679910 intergenic variant C/T snv 5.3E-02 0.800 1.000 3 2012 2019
dbSNP: rs11265257
rs11265257
1 1 159699194 intergenic variant C/T snv 0.34 0.700 1.000 3 2012 2013
dbSNP: rs11265260
rs11265260
2 1.000 0.080 1 159730249 intergenic variant A/G snv 6.8E-02 0.800 1.000 3 2012 2019
dbSNP: rs12081252
rs12081252
1 1 159736723 intergenic variant T/C snv 7.6E-02 0.700 1.000 3 2012 2014
dbSNP: rs12081264
rs12081264
1 1 159736770 intergenic variant T/C snv 0.15 0.700 1.000 3 2012 2014
dbSNP: rs1470515
rs1470515
1 1 159683809 intergenic variant C/T snv 0.36 0.700 1.000 3 2012 2013
dbSNP: rs16842502
rs16842502
1 1 159684073 intergenic variant C/A snv 5.5E-02 0.700 1.000 3 2012 2014
dbSNP: rs16842568
rs16842568
1 1 159706430 upstream gene variant A/G snv 5.6E-02 0.700 1.000 3 2012 2014
dbSNP: rs16842599
rs16842599
1 1 159727685 intergenic variant T/C snv 7.4E-02 0.700 1.000 3 2012 2014
dbSNP: rs2244608
rs2244608
9 0.882 0.160 12 120979185 intron variant A/G snv 0.29 0.700 1.000 3 2012 2013
dbSNP: rs2592887
rs2592887
1 1 159683149 intergenic variant C/T snv 0.43 0.700 1.000 3 2012 2013
dbSNP: rs2650000
rs2650000
10 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.800 1.000 3 2012 2019
dbSNP: rs2808624
rs2808624
1 1 159696131 intergenic variant C/G;T snv 0.700 1.000 3 2012 2013
dbSNP: rs3093075
rs3093075
5 0.882 0.120 1 159710123 upstream gene variant G/T snv 0.13 0.700 1.000 3 2012 2014
dbSNP: rs3093077
rs3093077
9 0.827 0.200 1 159709846 upstream gene variant A/C;G;T snv 0.700 1.000 3 2012 2014
dbSNP: rs7979473
rs7979473
2 12 120982457 intron variant A/C;G snv 0.800 1.000 3 2012 2019
dbSNP: rs10774579
rs10774579
1 12 120967407 intron variant T/C snv 0.43 0.700 1.000 2 2012 2013