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: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2014 2014
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2014 2014
dbSNP: rs9351963
rs9351963
KCNQ5
1 6 73040138 intron variant A/C snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs211105
rs211105
TPH1
4 1.000 11 18033757 intron variant T/G snv 0.19 0.020 1.000 2 2015 2018
dbSNP: rs1360182594
rs1360182594
MTHFR
1 1 11790755 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs17376848
rs17376848
DPYD
3 0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs1801265
rs1801265
DPYD
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs200748388
rs200748388
ABCB1
1 7 87601021 5 prime UTR variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2244613
rs2244613
CES1
4 0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 0.010 1.000 1 2015 2015
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2015 2015
dbSNP: rs546983534
rs546983534
KLC1 ; XRCC3 ; LOC112268131
1 14 103708630 missense variant G/A snv 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs745614189
rs745614189
ABCB1
1 7 87549387 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7548189
rs7548189
DPYD
4 0.882 0.160 1 97402157 intron variant C/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.030 1.000 3 2016 2017
dbSNP: rs10474485
rs10474485
CRHBP
2 1.000 0.040 5 76975028 intron variant C/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1050274678
rs1050274678
SLC19A1
3 0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121918081
rs121918081
TTR
3 0.925 0.200 18 31595124 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs12462111
rs12462111
NTN5 ; SEC1P
2 19 48668049 intron variant C/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs1458320839
rs1458320839
ABCB6
1 2 219218640 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2231137
rs2231137
ABCG2
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs35106244
rs35106244
FUT2
2 19 48700572 intron variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs8111874
rs8111874
NTN5 ; SEC1P
1 19 48665685 intron variant G/A snv 0.32 0.710 1.000 1 2016 2016
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs201253747
rs201253747
HTR4 ; LOC107986462
2 1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03 0.010 1.000 1 2017 2017