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: 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: rs10866845
rs10866845
EBF2 ; LOC102723395
1 1.000 0.120 8 25850751 synonymous variant T/C snv 0.42 0.49 0.010 1.000 1 2018 2018
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs17280682
rs17280682
NLRP14
1 1.000 0.120 11 7070338 missense variant C/T snv 0.15 0.15 0.010 1.000 1 2017 2017
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: rs1873668
rs1873668
MRPS22
1 1.000 0.120 3 139326219 intron variant T/G snv 0.90 0.010 1.000 1 2011 2011