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: rs9577873
rs9577873
GAS6 ; GAS6-AS1
1 1.000 0.200 13 113825282 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9517723
rs9517723
LOC107984558
2 0.925 0.200 13 99432425 non coding transcript exon variant T/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs9517701
rs9517701
UBAC2
1 1.000 0.200 13 99377286 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs9517668
rs9517668
UBAC2
1 1.000 0.200 13 99271586 intron variant T/A snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs9513584
rs9513584
UBAC2
1 1.000 0.200 13 99224027 intron variant G/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs9494885
rs9494885
WAKMAR2 ; LOC107986649
3 0.882 0.320 6 137851611 intron variant T/C snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs947474
rs947474
LINC02649 ; LINC02656
5 0.827 0.440 10 6348488 intron variant G/A snv 0.79 0.010 1.000 1 2016 2016
dbSNP: rs9471535
rs9471535
TREM1
5 0.851 0.240 6 41287752 upstream gene variant T/C snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs943899383
rs943899383
F5
1 1.000 0.200 1 169586343 frameshift variant C/- delins 0.010 1.000 1 2010 2010
dbSNP: rs9380217
rs9380217 		1 1.000 0.200 6 31083776 downstream gene variant C/T snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs9368678
rs9368678
HLA-B ; LOC112267902
1 1.000 0.200 6 31304686 intron variant T/C snv 9.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs936551
rs936551
CPLX1
1 1.000 0.200 4 827702 upstream gene variant A/G snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs9316059
rs9316059
NRAD1 ; LOC107984576
1 1.000 0.200 13 43912653 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9268861
rs9268861
HLA-DRB9
2 0.925 0.280 6 32462117 intron variant C/A snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs9266490
rs9266490 		1 1.000 0.200 6 31372381 intron variant A/G snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs9266409
rs9266409 		5 0.925 0.200 6 31368791 intron variant T/C snv 0.22 0.700 1.000 2 2012 2013
dbSNP: rs9266406
rs9266406 		1 1.000 0.200 6 31368641 intron variant G/A snv 0.22 0.800 1.000 2 2012 2013
dbSNP: rs9260997
rs9260997
HLA-A
1 1.000 0.200 6 29995539 upstream gene variant T/C snv 0.90 0.010 < 0.001 1 2015 2015
dbSNP: rs924080
rs924080 		3 0.882 0.240 1 67294457 intergenic variant T/C snv 0.45 0.840 0.800 5 2010 2019
dbSNP: rs913678
rs913678 		6 0.882 0.240 20 50338887 regulatory region variant T/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 1.000 3 2000 2013
dbSNP: rs897200
rs897200
STAT4
4 0.851 0.280 2 191153045 upstream gene variant T/C snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs886040969
rs886040969
NOD2
1 1.000 0.200 16 50712357 missense variant G/A snv 0.700 0
dbSNP: rs886039866
rs886039866
TNFRSF1A
1 1.000 0.200 12 6333376 missense variant G/A snv 0.700 0
dbSNP: rs855873
rs855873
AIM2
1 1.000 0.200 1 159077922 intron variant A/G snv 0.84 0.010 1.000 1 2015 2015