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: rs10494879
rs10494879
1 1 206778859 intergenic variant C/G snp 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1057519833
rs1057519833
1 7 148809375 missense variant G/C snp 0.700 1 2013 2013
dbSNP: rs11466782
rs11466782
1 5 157494947 intron variant A/G snp 0.11 0.010 1.000 1 2011 2011
dbSNP: rs12289961
rs12289961
1 11 58292720 non coding transcript exon variant C/T snp 0.29 0.800 1 2013 2013
dbSNP: rs2304240
rs2304240
1 19 10338716 synonymous variant A/G snp 0.81 0.86 0.010 1.000 1 2011 2011
dbSNP: rs2647045
rs2647045
1 6 32700323 intergenic variant G/A snp 0.26 0.800 1 2013 2013
dbSNP: rs273429
rs273429
1 8 131467654 intergenic variant C/T snp 0.44 0.700 1 2013 2013
dbSNP: rs4530903
rs4530903
1 6 32614112 intergenic variant C/T snp 0.10 0.800 1 2013 2013
dbSNP: rs535311760
rs535311760
1 1 3730979 missense variant G/A snp 1.2E-05; 8.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs566124212
rs566124212
1 1 3732990 missense variant G/A snp 0.010 1.000 1 2001 2001
dbSNP: rs707824
rs707824
1 6 14636732 intergenic variant T/C snp 0.76 0.800 1 2013 2013
dbSNP: rs708486
rs708486
1 14 52274253 intron variant A/G snp 0.36 0.010 1.000 1 2011 2011
dbSNP: rs757395384
rs757395384
1 1 3728197 missense variant G/A snp 3.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs771939956
rs771939956
1 17 7670705 missense variant C/T snp 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs779898240
rs779898240
1 2 5693509 missense variant C/T snp 5.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs948562
rs948562
1 11 58580292 intron variant A/G snp 0.16 0.800 1 2013 2013
dbSNP: rs9514827
rs9514827
1 13 108267055 intron variant T/C,G snp 0.25; 9.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs6676671
rs6676671
2 1.000 0.036 1 206779403 intergenic variant T/A snp 0.32 0.010 1.000 1 2008 2008
dbSNP: rs6773854
rs6773854
2 1.000 0.107 3 187931631 regulatory region variant T/C snp 0.23 0.800 1 2013 2013
dbSNP: rs12488654
rs12488654
3 0.923 0.143 3 172524100 intergenic variant G/A snp 0.17 0.010 1.000 1 2014 2014
dbSNP: rs2621416
rs2621416
3 0.923 0.179 6 32774091 intergenic variant T/C snp 0.27 0.800 1 2013 2013
dbSNP: rs267601395
rs267601395
3 0.923 0.143 7 148811636 missense variant A/G,T snp 0.700 1 2013 2013
dbSNP: rs867114783
rs867114783
3 17 7675109 missense variant T/C snp 0.010 1.000 1 2015 2015
dbSNP: rs1802710
rs1802710
4 0.923 0.071 14 100734308 synonymous variant T/A,C snp 0.63 0.64 0.010 1.000 1 2004 2004
dbSNP: rs267601394
rs267601394
5 0.878 0.179 7 148811635 missense variant T/A,G snp 0.710 1.000 3 2013 2014