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: rs111972148
rs111972148
1 1.000 0.080 17 45895755 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12185233
rs12185233
4 0.882 0.160 17 45846288 missense variant G/A;C snv 9.5E-05; 0.15 0.700 1.000 1 2012 2012
dbSNP: rs12373142
rs12373142
5 0.851 0.200 17 45846834 missense variant C/G;T snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs34416056
rs34416056
1 1.000 0.080 17 45873854 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs62055492
rs62055492
1 1.000 0.080 17 45873979 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs62056780
rs62056780
1 1.000 0.080 17 45896286 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs62621252
rs62621252
1 1.000 0.080 17 45845576 missense variant T/A;C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs74496580
rs74496580
1 1.000 0.080 17 45896699 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs76594404
rs76594404
1 1.000 0.080 17 45894091 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs17769552
rs17769552
3 0.925 0.120 17 45849924 intron variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs17763515
rs17763515
1 1.000 0.080 17 45840452 intron variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs17690679
rs17690679
3 0.925 0.120 17 45847437 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs113161176
rs113161176
1 1.000 0.080 17 45896988 non coding transcript exon variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs12373140
rs12373140
1 1.000 0.080 17 45846865 synonymous variant G/A snv 0.15 0.14 0.700 1.000 1 2012 2012
dbSNP: rs80346216
rs80346216
1 1.000 0.080 17 45897110 non coding transcript exon variant G/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs113347741
rs113347741
1 1.000 0.080 17 45896042 non coding transcript exon variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs12373124
rs12373124
9 0.790 0.120 17 45846853 synonymous variant T/C snv 0.15 0.14 0.700 1.000 1 2012 2012
dbSNP: rs74457229
rs74457229
1 1.000 0.080 17 45895215 non coding transcript exon variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs12373139
rs12373139
4 0.925 0.120 17 45846764 missense variant G/A snv 0.15 0.14 0.700 1.000 1 2012 2012
dbSNP: rs62056779
rs62056779
1 1.000 0.080 17 45894571 5 prime UTR variant C/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs79589869
rs79589869
1 1.000 0.080 17 45852872 intron variant C/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11575896
rs11575896
1 1.000 0.080 17 45894776 non coding transcript exon variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs62054824
rs62054824
1 1.000 0.080 17 45852626 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs78720789
rs78720789
1 1.000 0.080 17 45896047 non coding transcript exon variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs76632685
rs76632685
1 1.000 0.080 17 45897111 non coding transcript exon variant A/G;T snv 0.14 0.700 1.000 1 2012 2012