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: rs2816316
rs2816316
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.700 1.000 1 2011 2011
dbSNP: rs3130544
rs3130544
10 0.807 0.360 6 31090563 intergenic variant C/A snv 7.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs4648356
rs4648356
3 1.000 0.080 1 2792599 intron variant C/A snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs6859219
rs6859219
4 0.925 0.160 5 56142753 intron variant C/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2013 2013
dbSNP: rs11221332
rs11221332
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs657555
rs657555
4 0.925 0.080 18 12847137 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs7523907
rs7523907
3 1.000 0.080 1 167458010 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs11586238
rs11586238
4 0.925 0.160 1 116720516 regulatory region variant C/G snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs1678542
rs1678542
9 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs17876205
rs17876205
1 7 95403792 downstream gene variant C/G snv 1.4E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs13098911
rs13098911
5 0.882 0.200 3 46193709 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs212388
rs212388
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4750316
rs4750316
5 0.882 0.160 10 6351298 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs756207760
rs756207760
2 2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs926657
rs926657
3 6 159042420 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10460003
rs10460003
2 18 12747013 intron variant C/T snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs12138909
rs12138909
2 1 2607299 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs12928822
rs12928822
5 0.882 0.200 16 11310036 intron variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs17026688
rs17026688
2 1.000 0.040 3 30845325 intron variant C/T snv 9.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs17876183
rs17876183
1 7 95434956 missense variant C/T snv 1.2E-02 1.4E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1876518
rs1876518
2 2 65381775 intron variant C/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs2298428
rs2298428
9 0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18 0.800 1.000 1 2011 2011