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: rs7341475
rs7341475
6 0.851 0.240 7 103764368 intron variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2011 2011
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.020 1.000 2 2017 2017
dbSNP: rs2736345
rs2736345
BLK
3 0.882 0.280 8 11494976 intron variant A/G snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs7119038
rs7119038
1 1.000 0.200 11 118867572 intergenic variant G/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs3757387
rs3757387
6 0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs3823536
rs3823536
2 0.925 0.280 7 128939612 intron variant G/A snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs17339836
rs17339836
1 1.000 0.200 7 129041008 intron variant C/T snv 9.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs9938751
rs9938751
1 1.000 0.200 16 12908502 missense variant T/A;C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs6933404
rs6933404
5 0.925 0.280 6 137638098 intergenic variant T/C snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.020 1.000 2 2011 2018
dbSNP: rs6579837
rs6579837
1 1.000 0.200 5 151055333 intron variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs485497
rs485497
2 0.925 0.200 3 160001345 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2431098
rs2431098
5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs359457
rs359457
2 0.925 0.240 5 173852839 intergenic variant C/T snv 0.59 0.700 1.000 1 2013 2013
dbSNP: rs10168266
rs10168266
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs10553577
rs10553577
1 1.000 0.200 2 191090464 intron variant ATAATA/-;ATA;ATAATAATA delins 0.700 1.000 1 2013 2013
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.700 1.000 1 2017 2017
dbSNP: rs3135394
rs3135394
4 0.851 0.240 6 32440720 intron variant A/G snv 6.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs9271573
rs9271573
1 1.000 0.200 6 32622724 TF binding site variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs9271588
rs9271588
6 0.925 0.200 6 32623176 TF binding site variant T/C snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs115575857
rs115575857
1 1.000 0.200 6 32691868 regulatory region variant A/G snv 0.700 1.000 1 2013 2013