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: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs25957
rs25957
ANKH
1 1.000 0.040 5 14783123 intron variant C/G snv 0.77 0.010 1.000 1 2005 2005
dbSNP: rs28006
rs28006
ANKH
1 1.000 0.040 5 14781635 intron variant T/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs11187265
rs11187265
CYP26C1
1 1.000 0.040 10 93064409 missense variant G/A snv 0.10 8.8E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs1780329
rs1780329
ALPL
2 0.925 0.200 1 21576457 intron variant C/A snv 0.25 0.010 1.000 1 2007 2007
dbSNP: rs3738099
rs3738099
ALPL
1 1.000 0.040 1 21568242 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs3767155
rs3767155
ALPL
1 1.000 0.040 1 21558702 intron variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1264457
rs1264457
HLA-E
4 0.851 0.160 6 30490287 missense variant G/A;T snv 0.54 0.020 1.000 2 2007 2009
dbSNP: rs1004189
rs1004189
PIKFYVE
1 1.000 0.040 2 208349547 intron variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1024446168
rs1024446168
SYN1 ; TIMP1
1 1.000 0.040 X 47583421 synonymous variant C/A snv 1.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs11805303
rs11805303
IL23R ; C1orf141
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs12036228
rs12036228
FCRL5
1 1.000 0.040 1 157544301 missense variant C/T snv 0.19 0.23 0.010 1.000 1 2009 2009
dbSNP: rs142481975
rs142481975
MMP3
1 1.000 0.040 11 102843480 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2009 2009
dbSNP: rs6427384
rs6427384
FCRL5
1 1.000 0.040 1 157539092 missense variant C/G;T snv 0.82 0.010 1.000 1 2009 2009
dbSNP: rs7530511
rs7530511
IL23R ; C1orf141
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 1.000 1 2009 2009
dbSNP: rs2242944
rs2242944 		1 1.000 0.040 21 39093252 intergenic variant G/A snv 0.46 0.810 1.000 2 2010 2010
dbSNP: rs10946808
rs10946808
H2AC9P
5 1.000 0.040 6 26233159 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs2872507
rs2872507 		12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs30107
rs30107 		1 1.000 0.040 5 123756807 regulatory region variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs3734523
rs3734523
SLC17A2
4 0.882 0.120 6 25925759 intron variant G/A snv 7.5E-02 0.11 0.700 1.000 1 2010 2010
dbSNP: rs6979
rs6979
ACD ; CARMIL2
1 1.000 0.040 16 67657765 missense variant A/G snv 0.50 0.61 0.010 1.000 1 2010 2010
dbSNP: rs7743761
rs7743761 		1 1.000 0.040 6 31368323 intron variant C/A snv 0.31 0.800 1.000 1 2010 2010
dbSNP: rs9379831
rs9379831
H2BC6
1 1.000 0.040 6 26175624 intron variant C/A snv 0.28 0.700 1.000 1 2010 2010