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: rs10498070
rs10498070
2 0.925 0.080 2 219833404 intergenic variant A/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs10499197
rs10499197
2 0.925 0.080 6 137811379 intergenic variant T/G snv 2.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs11047102
rs11047102
2 0.925 0.160 12 23793212 intron variant C/T snv 7.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs11171747
rs11171747
1 1.000 0.040 12 56124624 3 prime UTR variant T/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs1133906
rs1133906
2 0.925 0.080 7 93135669 synonymous variant C/T snv 0.22 0.28 0.800 1.000 1 2013 2013
dbSNP: rs11642873
rs11642873
4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs11860650
rs11860650
3 0.882 0.120 16 31315385 intron variant C/T snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs12540874
rs12540874
3 0.882 0.280 7 50597225 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs12711490
rs12711490
4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs1535001
rs1535001
2 0.925 0.080 6 34959503 intron variant A/G snv 0.47 0.800 1.000 1 2013 2013
dbSNP: rs1635852
rs1635852
5 0.882 0.160 7 28149792 intron variant T/C snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs2176082
rs2176082
PXK
2 0.925 0.080 3 58345459 intron variant G/A snv 0.36 0.800 1.000 1 2013 2013
dbSNP: rs2233287
rs2233287
2 0.925 0.160 5 151060536 intron variant G/A snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs2275247
rs2275247
2 0.925 0.080 1 35442850 intron variant T/C snv 0.26 0.800 1.000 1 2013 2013
dbSNP: rs3129763
rs3129763
6 0.827 0.280 6 32623148 TF binding site variant G/A snv 0.23 0.800 1.000 1 2011 2011
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.800 1.000 1 2011 2011
dbSNP: rs3130573
rs3130573
1 1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33 0.800 1.000 1 2011 2011
dbSNP: rs3827644
rs3827644
2 0.925 0.080 6 106237320 intron variant G/C snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs704840
rs704840
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs7172677
rs7172677
2 0.925 0.080 15 75132252 intergenic variant A/C snv 0.71 0.800 1.000 1 2013 2013
dbSNP: rs7601754
rs7601754
3 0.882 0.160 2 191075725 intron variant G/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs9296015
rs9296015
4 0.851 0.280 6 32251212 upstream gene variant G/A snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs960709
rs960709
5 0.882 0.120 5 151081488 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs987870
rs987870
4 0.851 0.160 6 33075103 intron variant A/G snv 0.19 0.800 1.000 1 2011 2011
dbSNP: rs3117230
rs3117230
3 0.882 0.200 6 33107858 upstream gene variant A/G snv 0.28 0.710 1.000 1 2009 2009