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: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1382568
rs1382568
BLK
2 0.925 0.160 8 11493711 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1438386
rs1438386
SMAD3
1 1.000 0.120 15 67115561 intron variant G/A snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs1478887
rs1478887
BLK
1 1.000 0.120 8 11498471 intron variant C/T snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs1478895
rs1478895
BLK
1 1.000 0.120 8 11495826 intron variant G/C snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs1478900
rs1478900
BLK
1 1.000 0.120 8 11490151 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1478901
rs1478901
BLK
1 1.000 0.120 8 11490324 intron variant G/C snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1531577
rs1531577 		1 1.000 0.120 8 11481052 non coding transcript exon variant C/T snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs1561876
rs1561876
STIM1
2 0.925 0.160 11 4092165 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1564267
rs1564267 		2 0.925 0.160 8 11480378 non coding transcript exon variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1569723
rs1569723 		6 0.851 0.280 20 46113425 upstream gene variant C/A snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs1585729
rs1585729
BLK
1 1.000 0.120 8 11502536 intron variant G/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs1600249
rs1600249
BLK
5 0.827 0.280 8 11502129 intron variant G/T snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2018 2018
dbSNP: rs16849083
rs16849083
RBP2 ; LOC100507291
1 1.000 0.120 3 139465437 intron variant C/T snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs16921209
rs16921209
NEBL ; LOC102725112
3 0.882 0.160 10 20879174 intron variant C/G snv 4.6E-02 0.710 1.000 1 2016 2016
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2019 2019
dbSNP: rs17076896
rs17076896
TUBA3C ; LOC101928697
3 0.882 0.160 13 19181923 upstream gene variant T/C snv 8.3E-02 0.710 1.000 1 2016 2016
dbSNP: rs17136627
rs17136627
KCNN2 ; LOC101927078
2 0.925 0.120 5 114463289 intron variant C/T snv 7.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs17161726
rs17161726
BUD31
1 1.000 0.120 7 99410772 intron variant C/G snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs17416878
rs17416878 		1 1.000 0.120 1 16120485 downstream gene variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs17531088
rs17531088
NAALADL2
1 1.000 0.120 3 175175985 intron variant C/T snv 0.34 0.800 1.000 1 2009 2009
dbSNP: rs17667932
rs17667932
MED30
2 1.000 0.120 8 117537137 intron variant T/C snv 7.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs17782904
rs17782904
SETBP1
2 0.925 0.120 18 44733745 intron variant G/A snv 0.18 0.700 1.000 1 2016 2016