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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.070 0.571 7 2003 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.070 0.571 7 2003 2015
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2003 2010
dbSNP: rs175174
rs175174
3 0.882 0.120 22 20140031 non coding transcript exon variant A/G snv 0.44 0.010 1.000 1 2005 2005
dbSNP: rs1311223100
rs1311223100
2 0.925 0.120 8 20180955 frameshift variant T/- del 5.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2006 2006
dbSNP: rs1497020
rs1497020
2 0.925 0.120 8 20144915 3 prime UTR variant G/A snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs2270637
rs2270637
3 0.882 0.120 8 20179316 missense variant C/G snv 0.20 0.21 0.010 1.000 1 2006 2006
dbSNP: rs2270641
rs2270641
3 0.882 0.120 8 20180955 missense variant T/C;G snv 0.32 0.010 1.000 1 2006 2006
dbSNP: rs2279709
rs2279709
5 0.882 0.120 8 20178722 intron variant T/G snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs3735835
rs3735835
2 0.925 0.120 8 20164494 intron variant G/C snv 0.38 0.010 1.000 1 2006 2006
dbSNP: rs988713
rs988713
2 0.925 0.120 8 20183790 upstream gene variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1457319153
rs1457319153
1 1.000 0.080 3 49531991 missense variant A/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2007 2007
dbSNP: rs1800450
rs1800450
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.010 1.000 1 2007 2007
dbSNP: rs2229569
rs2229569
8 0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs371131106
rs371131106
ACE
2 0.925 0.120 17 63485346 missense variant A/G snv 8.4E-05 1.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs5030737
rs5030737
11 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs7096206
rs7096206
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1610037
rs1610037
2 0.925 0.120 18 910634 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs2284017
rs2284017
2 0.925 0.120 22 36700882 intron variant T/C snv 0.44 0.010 1.000 1 2008 2008
dbSNP: rs2284018
rs2284018
2 0.925 0.120 22 36701519 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2664349
rs2664349
1 1.000 0.080 8 88077054 intron variant G/A snv 0.65 0.010 1.000 1 2008 2008
dbSNP: rs2664352
rs2664352
1 1.000 0.080 8 88081070 intron variant T/C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs29066
rs29066
2 0.925 0.120 18 9959638 3 prime UTR variant T/A;C snv 0.010 1.000 1 2008 2008