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: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs2275848
rs2275848
2 0.925 0.120 9 93125038 missense variant G/T snv 0.81 0.77 0.010 < 0.001 1 2007 2007
dbSNP: rs10114470
rs10114470
4 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs10982385
rs10982385
1 1.000 0.040 9 114730737 intergenic variant T/G snv 0.47 0.700 1.000 1 2009 2009
dbSNP: rs11362
rs11362
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2009 2009
dbSNP: rs1800971
rs1800971
3 0.882 0.120 8 6870594 3 prime UTR variant T/C snv 8.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1800972
rs1800972
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2009 2009
dbSNP: rs2524132
rs2524132
1 1.000 0.040 6 31297135 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs28490179
rs28490179
1 1.000 0.040 6 32551228 upstream gene variant C/T snv 0.81 0.700 1.000 1 2009 2009
dbSNP: rs2853930
rs2853930
2 1.000 0.040 6 31287647 non coding transcript exon variant A/C;T snv 0.10 0.700 1.000 1 2009 2009
dbSNP: rs40457
rs40457
1 1.000 0.040 8 89811459 intergenic variant A/G snv 0.58 0.800 1.000 1 2009 2009
dbSNP: rs4574921
rs4574921
3 0.882 0.160 9 114776054 upstream gene variant C/T snv 0.80 0.700 1.000 1 2009 2009
dbSNP: rs602875
rs602875
1 1.000 0.040 6 32605852 intergenic variant A/G snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs7759127
rs7759127
5 0.925 0.040 6 31273211 intron variant T/G snv 0.11 0.700 1.000 1 2009 2009
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2009 2009
dbSNP: rs9264868
rs9264868
1 1.000 0.040 6 31303824 intron variant A/G snv 0.10 0.700 1.000 1 2009 2009
dbSNP: rs9270856
rs9270856
1 1.000 0.040 6 32603062 intergenic variant A/G snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs9271348
rs9271348
2 0.925 0.160 6 32615965 regulatory region variant G/A snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs9271366
rs9271366
9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.700 1.000 1 2009 2009
dbSNP: rs1071630
rs1071630
4 0.851 0.120 6 32641349 missense variant T/A;C snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs42490
rs42490
5 0.882 0.160 8 89766285 intron variant G/A snv 0.60 0.800 1.000 2 2009 2011
dbSNP: rs9302752
rs9302752
2 0.925 0.120 16 50685192 upstream gene variant T/C snv 0.68 0.800 1.000 2 2009 2011
dbSNP: rs1554286
rs1554286
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1587601
rs1587601
1 1.000 0.040 5 35254508 intergenic variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2011 2011