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: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1558284033
rs1558284033
RPL5 ; DIPK1A
4 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 0
dbSNP: rs756881285
rs756881285
ADA2
4 0.882 0.160 22 17209534 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.020 1.000 2 2006 2015
dbSNP: rs1800460
rs1800460
TPMT
7 0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02 0.020 1.000 2 2006 2017
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: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1801019
rs1801019
UMPS
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.010 1.000 1 2006 2006
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.050 1.000 5 2007 2017
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2007 2007
dbSNP: rs60369023
rs60369023
CDA
4 0.851 0.240 1 20604981 missense variant G/A snv 2.6E-04 1.5E-04 0.010 1.000 1 2007 2007
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.030 1.000 3 2008 2019
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2008 2008
dbSNP: rs1482105290
rs1482105290
DLEU2 ; TRIM13
2 0.925 0.040 13 50012772 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.909 11 2009 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2009 2018
dbSNP: rs1801160
rs1801160
DPYD ; DPYD-AS1
6 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.040 1.000 4 2009 2019
dbSNP: rs2297595
rs2297595
DPYD
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.020 1.000 2 2009 2019
dbSNP: rs104893624
rs104893624
CXCR4 ; LOC112268426
4 0.851 0.200 2 136114928 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1341929358
rs1341929358
NR1I3 ; TOMM40L
1 1.000 0.040 1 161230905 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1460631883
rs1460631883
MTG1
3 0.882 0.120 10 133420041 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1801265
rs1801265
DPYD
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs200754866
rs200754866
ABCB1
1 1.000 0.040 7 87536484 missense variant C/A;T snv 1.2E-05; 3.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2009 2009