Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs211105
rs211105
TPH1
1.000 11 18033757 intron variant T/G snv 0.19
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.020 1.000 2 2015 2018
dbSNP: rs1042597
rs1042597
UGT1A8
2 233618225 missense variant C/G;T snv 0.27; 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2010 2010
dbSNP: rs12513549
rs12513549
MSH3
5 80781309 intron variant G/T snv 0.13
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2019 2019
dbSNP: rs1360182594
rs1360182594
MTHFR
1 11790755 synonymous variant G/A snv 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs1458320839
rs1458320839
ABCB6
2 219218640 missense variant C/A;T snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2016 2016
dbSNP: rs17868320
rs17868320
UGT1A10 ; UGT1A8
2 233669782 intron variant C/T snv 4.0E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2012 2012
dbSNP: rs200748388
rs200748388
ABCB1
7 87601021 5 prime UTR variant G/A snv 7.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs2151222
rs2151222
IKBKE
1 206480926 intron variant A/G snv 0.28
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2020 2020
dbSNP: rs33013
rs33013
MSH3
5 80764197 intron variant G/A snv 0.35
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2019 2019
dbSNP: rs546983534
rs546983534
KLC1 ; XRCC3 ; LOC112268131
14 103708630 missense variant G/A snv 2.8E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs56038477
rs56038477
DPYD
1 97573863 synonymous variant C/T snv 1.4E-02 1.3E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2011 2011
dbSNP: rs6151627
rs6151627
MSH3
5 80669717 intron variant A/G snv 0.23
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2019 2019
dbSNP: rs745614189
rs745614189
ABCB1
7 87549387 synonymous variant G/A snv 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs769107320
rs769107320
UGT2B7
4 69108277 missense variant G/A;C snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2010 2010
dbSNP: rs8111874
rs8111874
NTN5 ; SEC1P
19 48665685 intron variant G/A snv 0.32
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.710 1.000 1 2016 2016
dbSNP: rs9351963
rs9351963
KCNQ5
6 73040138 intron variant A/C snv 0.19
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2014 2014
dbSNP: rs10474485
rs10474485
CRHBP
1.000 0.040 5 76975028 intron variant C/A snv 0.26
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2016 2016
dbSNP: rs1050274678
rs1050274678
SLC19A1
0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2016 2016
dbSNP: rs17376848
rs17376848
DPYD
0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs201253747
rs201253747
HTR4 ; LOC107986462
1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2017 2017
dbSNP: rs3758581
rs3758581
CYP2C19
0.925 0.040 10 94842866 missense variant A/G snv 0.95
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2017 2017
dbSNP: rs72552763
rs72552763
SLC22A1
0.925 0.040 6 160139849 inframe deletion GAT/- delins 0.15
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2017 2017
dbSNP: rs1801019
rs1801019
UMPS
0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.020 1.000 2 2006 2011
dbSNP: rs67376798
rs67376798
DPYD
0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.020 1.000 2 2014 2015
dbSNP: rs2244613
rs2244613
CES1
0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015