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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2016 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 < 0.001 2 2014 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs10515074
rs10515074
PIK3R1
2 0.925 0.120 5 68270365 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11081899
rs11081899
ZNF24
4 0.851 0.160 18 35344446 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
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: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 < 0.001 1 2014 2014
dbSNP: rs2297595
rs2297595
DPYD
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs2306744
rs2306744
DCK ; MOB1B
2 0.925 0.080 4 70993635 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2838958
rs2838958
SLC19A1
3 1.000 0.080 21 45528653 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs4240803
rs4240803
SLC7A5 ; LOC107987237
4 0.851 0.240 16 87855597 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs532545
rs532545
CDA
3 0.882 0.160 1 20588679 upstream gene variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs602950
rs602950
CDA
2 0.925 0.080 1 20589038 upstream gene variant A/G snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs7317112
rs7317112
ABCC4
1 1.000 0.080 13 95271269 intron variant A/G snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs757254775
rs757254775
ABCG2
1 1.000 0.080 4 88101293 missense variant G/T snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs8133052
rs8133052
CBR3 ; CBR3-AS1
6 0.925 0.120 21 36135203 missense variant G/A;C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs9906827
rs9906827
RPTOR
2 0.925 0.120 17 80691605 intron variant C/A;T snv 0.010 1.000 1 2017 2017