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: rs1554823375
rs1554823375
WDR37
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs2278637
rs2278637
VAMP2
1 1.000 0.040 17 8158784 intron variant G/T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs7439366
rs7439366
UGT2B7
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.020 1.000 2 2017 2018
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.010 1.000 1 2018 2018
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2013 2013
dbSNP: rs28898617
rs28898617
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 1.000 0.040 2 233729143 missense variant A/G snv 3.5E-03 1.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs2011425
rs2011425
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4
1 1.000 0.040 2 233718962 missense variant T/A;G snv 4.0E-05; 0.11 0.030 1.000 3 2011 2018
dbSNP: rs6755571
rs6755571
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4
3 1.000 0.040 2 233718890 missense variant C/A;T snv 3.6E-02; 4.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs1565532385
rs1565532385
UBE4A
3 0.925 0.080 11 118374964 frameshift variant CA/- del 0.700 0
dbSNP: rs730882212
rs730882212
TUBA3E
4 0.851 0.120 2 130194199 missense variant G/A snv 7.2E-05; 4.0E-06 4.2E-05 0.700 0
dbSNP: rs121908869
rs121908869
TSHR ; CEP128
5 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs730882223
rs730882223
TSEN15
4 0.851 0.120 1 184054736 missense variant T/G snv 0.700 0
dbSNP: rs2274924
rs2274924
TRPM6
6 0.851 0.160 9 74761731 missense variant T/C snv 0.20 0.23 0.010 1.000 1 2019 2019
dbSNP: rs3761847
rs3761847
TRAF1
8 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs59007384
rs59007384
TOMM40
4 0.851 0.080 19 44893408 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 < 0.001 1 2012 2012
dbSNP: rs763000109
rs763000109
TNF
9 0.827 0.240 6 31575788 missense variant C/G;T snv 4.1E-06; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs575822089
rs575822089
TBCK
3 0.882 0.120 4 106262103 stop gained G/A snv 7.7E-05 2.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs374319146
rs374319146
TBCK
6 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
dbSNP: rs141860749
rs141860749
SYT2
2 1.000 0.040 1 202668176 intron variant C/A snv 2.7E-04 0.700 1.000 1 2015 2015
dbSNP: rs199590018
rs199590018
SYP
3 0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05 0.010 1.000 1 2017 2017