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: rs113420705
rs113420705
CASP3 ; PRIMPOL
4 0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs1150793
rs1150793
MSH5 ; MSH5-SAPCD1
1 1.000 0.120 6 31749919 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs11734
rs11734
ZSCAN25
1 1.000 0.120 7 99632145 3 prime UTR variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11793049
rs11793049
ZNF618
2 0.925 0.120 9 114011589 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11990277
rs11990277
BLK
1 1.000 0.120 8 11514576 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs12041331
rs12041331
PEAR1
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs12068753
rs12068753 		2 1.000 0.120 1 159722747 intergenic variant T/A snv 0.15 0.710 1.000 1 2015 2015
dbSNP: rs12210919
rs12210919
MDGA1
2 0.925 0.120 6 37677736 intron variant T/C snv 6.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs12722477
rs12722477
HLA-G
1 1.000 0.120 6 29828599 missense variant C/A snv 0.14 0.14 0.010 1.000 1 2008 2008
dbSNP: rs12900413
rs12900413
MESP2
2 0.925 0.120 15 89777808 intron variant A/G snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs12901071
rs12901071
SMAD3
3 0.882 0.160 15 67078051 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs13256690
rs13256690 		1 1.000 0.120 8 11481059 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2012 2012
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