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: rs281864519
rs281864519
HBB
1 1.000 0.040 11 5227003 frameshift variant CA/- del 0.700 1.000 2 2009 2012
dbSNP: rs12085877
rs12085877
MASP2 ; TARDBP
1 1.000 0.040 1 11027630 missense variant C/T snv 7.1E-03 2.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs147689373
rs147689373
PKLR
2 0.925 0.160 1 155294618 missense variant C/T snv 6.9E-04 2.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs1800451
rs1800451
MBL2
9 0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs200463093
rs200463093
SP110
1 1.000 0.040 2 230170675 synonymous variant T/C snv 2.5E-04; 4.0E-06 1.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs352139
rs352139
TLR9
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2012 2012
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2012 2012
dbSNP: rs372091
rs372091
HBE1 ; HBG2 ; OR51B5
1 1.000 0.040 11 5496926 intron variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs4951074
rs4951074
ATP2B4
3 1.000 0.040 1 203691653 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs77641731
rs77641731
ABO
3 1.000 0.040 9 133257521 missense variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs8176703
rs8176703
ABO
1 1.000 0.040 9 133260460 intron variant G/T snv 0.700 1.000 1 2012 2012
dbSNP: rs8176719
rs8176719
ABO
6 0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 0.800 1.000 1 2012 2012
dbSNP: rs10900585
rs10900585
ATP2B4
1 1.000 0.040 1 203684896 intron variant G/T snv 0.81 0.810 1.000 2 2012 2013
dbSNP: rs762513613
rs762513613
FCGR2C
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.020 0.500 2 2006 2013
dbSNP: rs11213630
rs11213630 		1 1.000 0.040 11 110868831 intergenic variant A/G snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs12788102
rs12788102
MMP26 ; OR51F1
2 1.000 0.040 11 4769345 synonymous variant A/G snv 9.5E-02 9.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs12789492
rs12789492
MMP26
2 1.000 0.040 11 4772889 intron variant C/T snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12801757
rs12801757
MMP26
1 1.000 0.040 11 4785824 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12806476
rs12806476
MMP26
1 1.000 0.040 11 4785642 intron variant T/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12808215
rs12808215
MMP26
1 1.000 0.040 11 4786742 intron variant A/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs1469170
rs1469170 		1 1.000 0.040 11 110870290 intergenic variant A/G snv 0.55 0.800 1.000 1 2013 2013
dbSNP: rs1505209
rs1505209 		1 1.000 0.040 11 4571047 downstream gene variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1594812
rs1594812
MMP26
1 1.000 0.040 11 4777979 intron variant T/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs17227978
rs17227978
MMP26 ; OR51N1P
2 1.000 0.040 11 4787195 non coding transcript exon variant G/A snv 9.6E-02 0.700 1.000 1 2013 2013