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: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs2030324
rs2030324
6 0.827 0.120 11 27705368 intron variant A/G snv 0.49 0.010 1.000 1 2005 2005
dbSNP: rs2060762
rs2060762
1 1.000 0.080 7 50461686 intron variant A/G snv 0.81 0.010 1.000 1 2005 2005
dbSNP: rs2184026
rs2184026
1 1.000 0.080 9 98542066 intron variant C/G;T snv 0.25 0.010 1.000 1 2005 2005
dbSNP: rs2273504
rs2273504
1 1.000 0.080 20 63356709 intron variant G/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs2273505
rs2273505
1 1.000 0.080 20 63359526 non coding transcript exon variant C/T snv 4.0E-06; 9.2E-02 9.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs2491397
rs2491397
1 1.000 0.080 9 98442880 intron variant C/T snv 0.50 0.010 1.000 1 2005 2005
dbSNP: rs2779562
rs2779562
1 1.000 0.080 9 98515399 intron variant T/C snv 0.48 0.010 1.000 1 2005 2005
dbSNP: rs3750344
rs3750344
1 1.000 0.080 9 98578034 synonymous variant T/C snv 0.16 0.19 0.010 1.000 1 2005 2005
dbSNP: rs378042
rs378042
1 1.000 0.080 5 111524099 intron variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs3787137
rs3787137
1 1.000 0.080 20 63347748 intron variant G/A snv 0.42 0.010 1.000 1 2005 2005
dbSNP: rs6484320
rs6484320
2 1.000 0.080 11 27681641 intron variant T/A;G snv 0.010 1.000 1 2005 2005
dbSNP: rs7934165
rs7934165
2 0.925 0.160 11 27710436 intron variant G/A snv 0.49 0.010 1.000 1 2005 2005
dbSNP: rs921451
rs921451
DDC
2 1.000 0.080 7 50555587 intron variant T/C snv 0.32 0.010 1.000 1 2005 2005
dbSNP: rs12718541
rs12718541
2 0.925 0.080 7 50482446 intron variant A/G snv 0.55 0.010 1.000 1 2006 2006
dbSNP: rs1909884
rs1909884
2 0.925 0.120 15 32147097 intron variant G/A snv 0.41 0.010 1.000 1 2006 2006
dbSNP: rs2072660
rs2072660
1 1.000 0.080 1 154576245 3 prime UTR variant T/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs2302762
rs2302762
1 1.000 0.080 17 7455542 non coding transcript exon variant T/C snv 0.61 0.010 1.000 1 2006 2006
dbSNP: rs2302763
rs2302763
1 1.000 0.080 17 7455958 intron variant T/C;G snv 0.18 0.010 1.000 1 2006 2006
dbSNP: rs2302765
rs2302765
1 1.000 0.080 17 7447656 splice region variant T/C snv 0.18 0.17 0.010 1.000 1 2006 2006
dbSNP: rs2337980
rs2337980
2 0.925 0.120 15 32151995 intron variant C/T snv 0.45 0.010 1.000 1 2006 2006
dbSNP: rs4861065
rs4861065
1 1.000 0.080 4 40342378 intron variant T/C snv 0.32 0.010 1.000 1 2006 2006
dbSNP: rs9217
rs9217
3 1.000 0.080 17 7459769 3 prime UTR variant T/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs9298629
rs9298629
1 1.000 0.080 8 42751043 downstream gene variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1122530
rs1122530
1 1.000 0.080 9 84849437 intron variant A/G snv 0.22 0.010 1.000 1 2007 2007