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: rs1382048442
rs1382048442
ABCC2
2 0.925 0.160 10 99797141 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2740574
rs2740574
CYP3A4
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs29073
rs29073 		1 1.000 0.080 18 9971793 regulatory region variant A/C;G snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs6939066
rs6939066
OFCC1
1 1.000 0.080 6 9725037 intron variant C/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs55885134
rs55885134
OFCC1 ; LOC112267894
1 1.000 0.080 6 9673729 intron variant CTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs855256
rs855256
OFCC1
1 1.000 0.080 6 9604955 intron variant C/T snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs201794747
rs201794747 		1 1.000 0.080 6 9589686 intergenic variant CG/- delins 8.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs139092879
rs139092879 		1 1.000 0.080 6 9537891 intergenic variant T/A snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs114190032
rs114190032 		1 1.000 0.080 6 9509023 intergenic variant G/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs8013382
rs8013382 		1 1.000 0.080 14 94742075 intergenic variant A/G snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs145080284
rs145080284 		2 1.000 0.080 10 94662973 intergenic variant C/G snv 2.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs79032435
rs79032435 		1 1.000 0.080 6 9464314 intergenic variant C/T snv 5.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs6457977
rs6457977 		1 1.000 0.080 6 9419866 intergenic variant G/A snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs2294736
rs2294736 		1 1.000 0.080 6 9389079 regulatory region variant T/C snv 8.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs9357047
rs9357047 		7 0.807 0.080 6 9327323 intergenic variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs78576899
rs78576899 		1 1.000 0.080 6 9304416 intergenic variant C/T snv 6.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs2074585
rs2074585
IQGAP1
5 0.925 0.080 15 90466252 intron variant G/A snv 0.63 0.67 0.700 1.000 1 2017 2017
dbSNP: rs11243290
rs11243290
HULC ; LOC105374914
1 1.000 0.080 6 9000190 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs5934505
rs5934505 		10 0.776 0.120 X 8945785 intergenic variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs4945
rs4945
MFGE8
2 0.925 0.120 15 88913313 missense variant G/T snv 0.38 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1878327
rs1878327
MFGE8
2 0.925 0.120 15 88907315 synonymous variant C/T snv 0.61 0.67 0.010 1.000 1 2019 2019
dbSNP: rs3743388
rs3743388
MFGE8
2 0.925 0.120 15 88905906 splice region variant C/A;G snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs12447206
rs12447206
GSE1 ; LINC00311
1 1.000 0.080 16 85285793 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6811219
rs6811219
FGF5 ; CFAP299
1 1.000 0.080 4 80330044 intron variant C/T snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs4690116
rs4690116
FGF5
7 0.807 0.080 4 80285223 intron variant T/A snv 0.59 0.700 1.000 1 2017 2017