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: rs28493229
rs28493229
COQ8B ; ITPKC
3 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.890 0.900 10 2010 2018
dbSNP: rs6993775
rs6993775
BLK
1 1.000 0.120 8 11512480 intron variant G/T snv 0.77 0.720 1.000 3 2012 2019
dbSNP: rs10082659
rs10082659
LDLRAD3
1 1.000 0.120 11 36122428 intron variant G/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs10100215
rs10100215
BLK
1 1.000 0.120 8 11504763 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1113452
rs1113452
FSD2
1 1.000 0.120 15 82805465 intron variant G/A snv 3.5E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs11250141
rs11250141
BLK
1 1.000 0.120 8 11514632 intron variant G/A snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs11340705
rs11340705
LINC00690
1 1.000 0.120 3 16526578 intron variant AA/-;A;AAA delins 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: 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: 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: 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: 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: 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