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: rs1555910162
rs1555910162
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs1555939456
rs1555939456
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.020 0.500 2 1998 2000
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2004 2004
dbSNP: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 1998 2006
dbSNP: rs1655285
rs1655285
1 1 231563728 intron variant G/C snv 9.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2007 2007
dbSNP: rs2076369
rs2076369
3 0.925 0.040 22 38067645 non coding transcript exon variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs3738401
rs3738401
4 0.882 0.080 1 231694549 missense variant G/A snv 0.30 0.26 0.010 1.000 1 2007 2007
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2007 2007
dbSNP: rs713729
rs713729
2 1.000 0.040 22 38059462 intron variant T/A snv 0.20 0.010 1.000 1 2007 2007
dbSNP: rs737864
rs737864
2 1.000 0.040 22 19942636 intron variant C/T snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs737865
rs737865
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs751229
rs751229
2 1.000 0.040 1 231632793 intron variant A/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs951436
rs951436
3 0.925 0.040 1 163063552 regulatory region variant A/C snv 0.42 0.010 1.000 1 2007 2007
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.030 1.000 3 2004 2008
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 < 0.001 1 2008 2008
dbSNP: rs2619538
rs2619538
4 0.882 0.040 6 15664978 upstream gene variant A/T snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs2619539
rs2619539
3 0.925 0.040 6 15620624 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs3213207
rs3213207
11 0.776 0.120 6 15627871 intron variant T/C snv 8.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.020 1.000 2 2008 2009
dbSNP: rs1421292
rs1421292
3 0.925 0.040 13 105545886 intergenic variant T/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs16147
rs16147
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2009 2009