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: rs1049793
rs1049793
AOC1 ; LOC105375567
4 0.882 0.080 7 150860577 missense variant C/G;T snv 0.37 0.37 0.010 1.000 1 2006 2006
dbSNP: rs1127233
rs1127233
MUC13
2 0.925 0.040 3 124908177 missense variant T/G snv 0.24 0.26 0.010 1.000 1 2006 2006
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs11825977
rs11825977
MUC2
2 0.925 0.040 11 1075920 splice region variant G/A snv 0.18 0.20 0.010 1.000 1 2006 2006
dbSNP: rs1199323686
rs1199323686
NOD2
2 0.925 0.040 16 50716670 frameshift variant C/- del 0.010 1.000 1 2006 2006
dbSNP: rs1277073914
rs1277073914
MUC12
2 0.925 0.040 7 100992117 missense variant T/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1452975937
rs1452975937
MUC4
2 0.925 0.040 3 195790889 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2246901
rs2246901
MUC4
3 0.882 0.080 3 195762138 missense variant C/A;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs548532642
rs548532642
TNF
3 0.882 0.080 6 31577184 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 < 0.001 1 2006 2006
dbSNP: rs747405414
rs747405414
MUC4
2 0.925 0.040 3 195762190 missense variant G/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 1.000 15 2007 2020
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.100 0.833 12 2007 2019
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.050 0.800 5 2007 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2007 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2007 2010
dbSNP: rs1333407770
rs1333407770
DLG5
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.020 0.500 2 2007 2016
dbSNP: rs2289310
rs2289310
DLG5
3 0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02 0.020 0.500 2 2007 2016
dbSNP: rs3814055
rs3814055
NR1I2
4 0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 0.020 1.000 2 2007 2011
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2007 2010
dbSNP: rs11264799
rs11264799
FCRL3
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs17130
rs17130
PTPRS
1 1.000 0.040 19 5254959 intron variant T/C snv 0.32 0.010 1.000 1 2007 2007
dbSNP: rs2289311
rs2289311
DLG5
3 0.882 0.120 10 77805897 3 prime UTR variant G/A;C;T snv 0.30; 1.3E-05 0.010 1.000 1 2007 2007