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: rs546983534
rs546983534
KLC1 ; XRCC3 ; LOC112268131
1 14 103708630 missense variant G/A snv 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs370244148
rs370244148
WNT2B
6 0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 0.700 0
dbSNP: rs1360182594
rs1360182594
MTHFR
1 1 11790755 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1801019
rs1801019
UMPS
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.020 1.000 2 2006 2011
dbSNP: rs2032592
rs2032592
DDX3Y
5 0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs201253747
rs201253747
HTR4 ; LOC107986462
2 1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs72552763
rs72552763
SLC22A1
3 0.925 0.040 6 160139849 inframe deletion GAT/- delins 0.15 0.010 1.000 1 2017 2017
dbSNP: rs211105
rs211105
TPH1
4 1.000 11 18033757 intron variant T/G snv 0.19 0.020 1.000 2 2015 2018
dbSNP: rs1555909961
rs1555909961
TMPRSS15
2 1.000 0.080 21 18398320 frameshift variant AGTGC/- del 0.700 0
dbSNP: rs2151222
rs2151222
IKBKE
1 1 206480926 intron variant A/G snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs7311358
rs7311358
SLCO1B3 ; SLCO1B3-SLCO1B7
6 0.827 0.160 12 20862826 missense variant G/A snv 0.81 0.72 0.010 1.000 1 2017 2017
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.030 1.000 3 2016 2017
dbSNP: rs1458320839
rs1458320839
ABCB6
1 2 219218640 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1042597
rs1042597
UGT1A8
3 2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs17868320
rs17868320
UGT1A10 ; UGT1A8
1 2 233669782 intron variant C/T snv 4.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs4124874
rs4124874
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
8 0.851 0.120 2 233757013 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs121918081
rs121918081
TTR
3 0.925 0.200 18 31595124 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1131692245
rs1131692245
NPHS1
7 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2015 2015
dbSNP: rs1050274678
rs1050274678
SLC19A1
3 0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs8111874
rs8111874
NTN5 ; SEC1P
1 19 48665685 intron variant G/A snv 0.32 0.710 1.000 1 2016 2016
dbSNP: rs12462111
rs12462111
NTN5 ; SEC1P
2 19 48668049 intron variant C/T snv 0.33 0.700 1.000 1 2016 2016