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: 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: rs1057910
rs1057910
CYP2C9
0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2017 2017
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: 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: rs121918081
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv
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: rs1801265
rs1801265
DPYD
0.763 0.280 1 97883329 missense variant A/G snv 0.28
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: rs2032592
rs2032592
DDX3Y
0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2010 2010
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: 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: 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: 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: 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
dbSNP: rs2306283
rs2306283
SLCO1B1
0.742 0.320 12 21176804 missense variant A/G;T snv 0.47
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2016 2016
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2009 2009
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: rs7548189
rs7548189
DPYD
0.882 0.160 1 97402157 intron variant C/A snv 0.19
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: 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: 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: 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: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2016 2016
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: 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