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: 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: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.050 1.000 5 2009 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 < 0.001 1 2014 2014
dbSNP: rs1137101
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.020 1.000 2 2010 2017
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2018 2018
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2018 2018
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.030 1.000 3 2006 2019
dbSNP: rs121913682
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2009 2009