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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.900 10 2005 2018
dbSNP: rs1805008
rs1805008
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs2269577
rs2269577
4 0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs706779
rs706779
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.810 1.000 5 2010 2016
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.810 1.000 4 2010 2015
dbSNP: rs229527
rs229527
2 0.925 0.160 22 37185445 missense variant C/A;G snv 0.43 0.800 1.000 4 2010 2016
dbSNP: rs8192917
rs8192917
3 0.925 0.040 14 24632954 missense variant C/T snv 0.76 0.72 0.810 1.000 4 2010 2018
dbSNP: rs1393350
rs1393350
7 0.851 0.160 11 89277878 intron variant G/A snv 0.17 0.800 1.000 3 2010 2012
dbSNP: rs9468925
rs9468925
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.820 1.000 3 2010 2012
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 2 2010 2012
dbSNP: rs11966200
rs11966200
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.810 0.500 2 2010 2013
dbSNP: rs13076312
rs13076312
LPP
2 1.000 0.040 3 188371466 intron variant C/T snv 0.44 0.800 1.000 2 2010 2016
dbSNP: rs13208776
rs13208776
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.810 0.500 2 2010 2011
dbSNP: rs3806156
rs3806156
5 0.827 0.280 6 32405921 intron variant G/A;T snv 0.800 1.000 2 2010 2012
dbSNP: rs4908760
rs4908760
1 1.000 0.040 1 8466082 intron variant G/A snv 0.68 0.800 1.000 2 2010 2012
dbSNP: rs532098
rs532098
3 0.882 0.120 6 32610275 intergenic variant G/A snv 0.43 0.700 1.000 2 2010 2012
dbSNP: rs6902119
rs6902119
3 0.882 0.160 6 167092303 intron variant T/C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs10484554
rs10484554
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs1079541
rs1079541
1 1.000 0.040 6 30438979 intergenic variant C/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs11593576
rs11593576
2 0.925 0.040 10 79256139 intron variant C/T snv 0.29 0.800 1.000 1 2010 2010
dbSNP: rs11964542
rs11964542
1 1.000 0.040 6 30103983 non coding transcript exon variant T/C snv 7.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs11966619
rs11966619
1 1.000 0.040 6 30461256 intergenic variant T/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs11967808
rs11967808
1 1.000 0.040 6 30211411 intron variant G/C snv 3.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs12153855
rs12153855
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010