Source: ALL
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: rs12289961
rs12289961
1 11 58292720 non coding transcript exon variant C/T snv 0.28 0.800 1.000 1 2013 2013
dbSNP: rs2647045
rs2647045
1 6 32700323 TF binding site variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs273429
rs273429
1 8 131467654 intergenic variant C/T snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs4530903
rs4530903
1 6 32614112 intergenic variant C/T snv 0.10 0.800 1.000 1 2013 2013
dbSNP: rs948562
rs948562
1 11 58580292 intron variant A/G snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs6773854
rs6773854
2 1.000 0.120 3 187931631 downstream gene variant T/C snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs1057519833
rs1057519833
3 0.925 0.120 7 148809375 missense variant G/C snv 0.710 1.000 2 2012 2012
dbSNP: rs1042752
rs1042752
3 0.925 0.120 11 111352386 3 prime UTR variant A/G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs10494879
rs10494879
3 0.925 0.120 1 206778859 intron variant C/A;G snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs11466782
rs11466782
3 0.925 0.120 5 157494947 intron variant A/G snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs1257715362
rs1257715362
3 0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1351687973
rs1351687973
3 0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs138228187
rs138228187
3 0.925 0.120 11 126292650 missense variant C/T snv 4.0E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1555525126
rs1555525126
3 0.925 0.120 17 7673749 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs1802710
rs1802710
3 14 100734308 synonymous variant T/A;C snv 0.63 0.010 1.000 1 2004 2004
dbSNP: rs2466571
rs2466571
3 0.925 0.120 1 207766701 intron variant G/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs535311760
rs535311760
3 0.925 0.120 1 3730979 missense variant G/A snv 1.2E-05; 8.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs707824
rs707824
3 0.925 0.120 6 14636732 intergenic variant T/C snv 0.74 0.810 1.000 1 2013 2013
dbSNP: rs708486
rs708486
3 0.925 0.120 14 52274253 intron variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs867329357
rs867329357
3 0.925 0.120 13 102872275 missense variant G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs867830180
rs867830180
3 0.925 0.120 20 63695147 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs869312777
rs869312777
3 0.925 0.120 10 87933245 missense variant C/G snv 0.700 0
dbSNP: rs10190751
rs10190751
4 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 0.010 1.000 1 2009 2009
dbSNP: rs2304240
rs2304240
4 0.882 0.200 19 10338716 synonymous variant A/G snv 0.81 0.85 0.010 1.000 1 2011 2011
dbSNP: rs2621416
rs2621416
4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.800 1.000 1 2013 2013