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: rs8175347
rs8175347
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.020 1.000 2 2016 2019
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs606231451
rs606231451
TMEM240
2 0.925 0.120 1 1535372 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs11567847
rs11567847
TEAD1
3 0.925 0.120 11 12937202 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs4149000
rs4149000
SLCO1A2
5 0.882 0.080 12 21295063 non coding transcript exon variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs138694505
rs138694505
SEMA3A
1 1.000 0.040 7 84007493 missense variant T/C snv 3.4E-03 6.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs11720524
rs11720524
SCN5A
3 0.882 0.080 3 38633921 intron variant C/G;T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1458500258
rs1458500258
RYR2
3 0.925 0.080 1 237388098 missense variant G/T snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs1805323
rs1805323
PMS2
2 0.925 0.160 7 5987311 missense variant G/A;T snv 4.0E-06; 8.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2012 2019
dbSNP: rs116928232
rs116928232
LIPA
9 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.700 0
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs12720459
rs12720459
KCNQ1
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2017 2017
dbSNP: rs1805015
rs1805015
IL4R
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2007 2007
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs3864180
rs3864180
GPC5
1 1.000 0.040 13 91784234 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs104894393
rs104894393
FGF14
2 0.925 0.120 13 101726785 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs3512
rs3512
FAN1 ; MTMR10
4 0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 0.010 1.000 1 2016 2016