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: 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: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2008 2008
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: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2004 2011
dbSNP: rs2231231
rs2231231
5 0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2008 2010
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
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: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs2227307
rs2227307
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs273429
rs273429
1 8 131467654 intergenic variant C/T snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2013 2015
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2008 2010
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: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
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: rs708486
rs708486
3 0.925 0.120 14 52274253 intron variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs1800890
rs1800890
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs6676671
rs6676671
4 0.882 0.160 1 206779403 intron variant T/A snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs17655
rs17655
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs9268853
rs9268853
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs2395185
rs2395185
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs12289961
rs12289961
1 11 58292720 non coding transcript exon variant C/T snv 0.28 0.800 1.000 1 2013 2013