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: rs117026326
rs117026326
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.800 1.000 2 2013 2016
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2009 2009
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: rs10489629
rs10489629
5 0.827 0.240 1 67222666 intron variant T/C snv 0.48 0.010 1.000 1 2009 2009
dbSNP: rs10553577
rs10553577
1 1.000 0.200 2 191090464 intron variant ATAATA/-;ATA;ATAATAATA delins 0.700 1.000 1 2013 2013
dbSNP: rs1085308048
rs1085308048
6 0.851 0.320 10 87933175 stop gained T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs11048434
rs11048434
1 1.000 0.200 12 9001336 intron variant G/A snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs115575857
rs115575857
1 1.000 0.200 6 32691868 regulatory region variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
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: rs1507153
rs1507153
1 1.000 0.200 6 78774669 intergenic variant C/A snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs17074492
rs17074492
1 1.000 0.200 13 81587764 intergenic variant C/A;T snv 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: rs1957173
rs1957173
1 1.000 0.200 14 45937713 intron variant C/T snv 4.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2431098
rs2431098
5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 1 2013 2013
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: 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: rs359457
rs359457
2 0.925 0.240 5 173852839 intergenic variant C/T snv 0.59 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: rs4282438
rs4282438
6 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs485497
rs485497
2 0.925 0.200 3 160001345 intron variant A/C;G snv 0.700 1.000 1 2013 2013