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: rs1484373144
rs1484373144
USO1
2 4 75782775 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
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 2002 2018
dbSNP: rs12233719
rs12233719
UGT2B7
2 4 69096731 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 1.4E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.010 1.000 1 2002 2002
dbSNP: rs765502022
rs765502022
UGT2B7
8 0.827 0.240 4 69112695 missense variant T/C snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs11692021
rs11692021
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
3 1.000 0.080 2 233682559 missense variant T/C snv 0.35 0.34 0.010 1.000 1 2010 2010
dbSNP: rs386656364
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 missense variant CG/AA mnv 0.010 1.000 1 2002 2002
dbSNP: rs771314938
rs771314938
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/- del 0.010 1.000 1 2002 2002
dbSNP: rs879625015
rs879625015
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/A delins 0.010 1.000 1 2002 2002
dbSNP: rs10929251
rs10929251
UGT1A10 ; UGT1A8
5 1.000 0.080 2 233637583 intron variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs17864678
rs17864678
UGT1A10 ; UGT1A8
5 1.000 0.080 2 233635964 intron variant T/A snv 5.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs1395602
rs1395602
UBN1
1 16 4861238 intron variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs2251666
rs2251666
UBN1
1 16 4873090 intron variant G/A;C snv 0.37; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs6500637
rs6500637
UBN1
1 16 4870660 intron variant T/C snv 0.39; 4.0E-06 0.40 0.700 1.000 1 2017 2017
dbSNP: rs8064029
rs8064029
UBN1
1 16 4863368 intron variant C/T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs1464681682
rs1464681682
U2AF1L5 ; LOC102724701 ; LOC102724843
6 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs371246226
rs371246226
U2AF1
8 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs3838646
rs3838646
TTTY14
8 0.827 0.320 Y 18991182 intron variant CA/- del 0.010 < 0.001 1 2014 2014
dbSNP: rs52812045
rs52812045
TTTY14
7 0.851 0.240 Y 18992540 non coding transcript exon variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs4987668
rs4987668
TRPV6
1 7 142874896 splice region variant A/G snv 9.0E-02 0.20 0.700 1.000 1 2017 2017
dbSNP: rs4252381
rs4252381
TRPV5
1 7 142932278 intron variant G/T snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs4252416
rs4252416
TRPV5
1 7 142928322 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4252435
rs4252435
TRPV5
1 7 142925619 synonymous variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6968949
rs6968949
TRBVA
1 7 142681544 intron variant C/T snv 0.53 0.700 1.000 1 2017 2017