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: rs7763822
rs7763822
1 1.000 0.040 6 33092651 intron variant C/T snv 5.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs7764491
rs7764491
1 1.000 0.040 6 33093063 non coding transcript exon variant C/G snv 5.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 1.000 5 2002 2010
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.020 1.000 2 2009 2010
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.020 1.000 2 2009 2010
dbSNP: rs1035798
rs1035798
1 1.000 0.040 6 32183445 splice region variant G/A snv 0.24 0.19 0.700 1.000 1 2010 2010
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 < 0.001 1 2010 2010
dbSNP: rs10744676
rs10744676
2 0.925 0.080 12 5043783 upstream gene variant C/T snv 0.88 0.010 1.000 1 2010 2010
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs12153855
rs12153855
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1521
rs1521
3 0.882 0.320 6 31382927 upstream gene variant C/T snv 0.74 0.700 1.000 1 2010 2010
dbSNP: rs17266594
rs17266594
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 1.000 1 2010 2010
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs2071286
rs2071286
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs2071295
rs2071295
2 0.925 0.120 6 32070923 intron variant C/T snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs2075800
rs2075800
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.700 1.000 1 2010 2010
dbSNP: rs2239689
rs2239689
2 0.925 0.120 6 32062507 intron variant G/A snv 0.33 0.25 0.700 1.000 1 2010 2010
dbSNP: rs2248462
rs2248462
10 0.807 0.240 6 31479019 downstream gene variant G/A snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs2516398
rs2516398
3 0.882 0.200 6 31513749 upstream gene variant G/T snv 0.70 0.700 1.000 1 2010 2010
dbSNP: rs2516399
rs2516399
3 0.925 0.120 6 31513522 upstream gene variant A/G snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs2516509
rs2516509
7 0.882 0.160 6 31482217 intron variant T/C snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs2523477
rs2523477
3 0.925 0.080 6 31392612 downstream gene variant T/C snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs2596480
rs2596480
3 0.925 0.120 6 31458208 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2844494
rs2844494
2 0.925 0.160 6 31515638 upstream gene variant C/A snv 0.70 0.700 1.000 1 2010 2010