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: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs2269272
rs2269272
1 1.000 0.040 5 36687754 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2005 2005
dbSNP: rs928079448
rs928079448
2 0.925 0.040 11 637406 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs498793
rs498793
3 1.000 0.040 11 61857233 intron variant T/C snv 0.62 0.010 1.000 1 2006 2006
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.030 0.667 3 2000 2007
dbSNP: rs7124601
rs7124601
1 1.000 0.040 11 639273 intron variant C/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs11568324
rs11568324
1 1.000 0.040 16 55692146 intron variant C/T snv 5.3E-03 0.020 1.000 2 2008 2008
dbSNP: rs10492664
rs10492664
2 0.925 0.040 13 108163877 intergenic variant C/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs10514604
rs10514604
1 1.000 0.040 16 84412778 intron variant C/A;G snv 0.800 1.000 1 2008 2008
dbSNP: rs1057517991
rs1057517991
2 0.925 0.120 18 60371539 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs10983238
rs10983238
1 1.000 0.040 9 116571404 intron variant C/A;G snv 0.16 0.800 1.000 1 2008 2008
dbSNP: rs11243897
rs11243897
AK8
1 1.000 0.040 9 132742896 intron variant A/G snv 0.33 0.800 1.000 1 2008 2008
dbSNP: rs1517484
rs1517484
1 1.000 0.040 2 225373194 intergenic variant C/T snv 0.45 0.700 1.000 1 2008 2008
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs2097603
rs2097603
3 0.882 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs220470
rs220470
1 1.000 0.040 17 3761681 intron variant A/G snv 0.71 0.800 1.000 1 2008 2008
dbSNP: rs2212361
rs2212361
1 1.000 0.040 11 94579157 intron variant T/C snv 0.23 0.700 1.000 1 2008 2008
dbSNP: rs2281597
rs2281597
1 1.000 0.040 1 33894257 intron variant G/C snv 0.82 0.800 1.000 1 2008 2008
dbSNP: rs2587695
rs2587695
1 1.000 0.040 2 119564241 intron variant A/G snv 0.58 0.800 1.000 1 2008 2008
dbSNP: rs2677744
rs2677744
1 1.000 0.040 15 90907211 non coding transcript exon variant G/A snv 0.54 0.800 1.000 1 2008 2008
dbSNP: rs2770112
rs2770112
1 1.000 0.040 6 157776137 intron variant A/T snv 0.57 0.010 1.000 1 2008 2008
dbSNP: rs522958
rs522958
1 1.000 0.040 12 28075634 intergenic variant G/A snv 0.65 0.800 1.000 1 2008 2008
dbSNP: rs7164335
rs7164335
1 1.000 0.040 15 68422693 intron variant A/C;G snv 0.800 1.000 1 2008 2008
dbSNP: rs7175404
rs7175404
1 1.000 0.040 15 93493459 intron variant A/G snv 0.26 0.800 1.000 1 2008 2008
dbSNP: rs7995215
rs7995215
1 1.000 0.040 13 93756253 intron variant A/G snv 0.68 0.800 1.000 1 2008 2008