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: rs1045433
rs1045433
1 1.000 0.160 3 3149742 non coding transcript exon variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1049623
rs1049623
2 0.925 0.200 6 30897052 synonymous variant T/C snv 0.47 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1049633
rs1049633
1 1.000 0.160 6 30899750 3 prime UTR variant G/A snv 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs1057519718
rs1057519718
2 0.925 0.160 7 140753355 missense variant CA/TC mnv 0.010 1.000 1 2011 2011
dbSNP: rs11064392
rs11064392
CD4
1 1.000 0.160 12 6789226 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs12147254
rs12147254
4 0.851 0.240 14 102799329 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs121909631
rs121909631
5 0.827 0.280 8 38419696 missense variant T/C snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.010 < 0.001 1 2006 2006
dbSNP: rs12203592
rs12203592
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs12374648
rs12374648
1 1.000 0.160 6 151208234 intron variant A/G snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs1242982981
rs1242982981
4 0.851 0.160 12 9984989 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1250801605
rs1250801605
1 1.000 0.160 2 201185809 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12621278
rs12621278
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs12717
rs12717
2 0.925 0.160 6 170553212 missense variant G/C snv 0.42 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs13409
rs13409
1 1.000 0.160 6 31164363 3 prime UTR variant G/A snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs1400966919
rs1400966919
3 0.925 0.240 5 177096737 missense variant G/A snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs1419881
rs1419881
4 0.851 0.280 6 31162816 3 prime UTR variant G/A snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1428
rs1428
3 0.882 0.200 13 91354516 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs143267032
rs143267032
1 1.000 0.160 7 102028117 missense variant C/G snv 2.8E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs1450703683
rs1450703683
1 1.000 0.160 X 8533018 missense variant T/C snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs145738773
rs145738773
1 1.000 0.160 1 15504663 synonymous variant G/A snv 4.4E-05 1.0E-04 0.010 1.000 1 2008 2008