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: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2017 2017
dbSNP: rs3758581
rs3758581
CYP2C19
3 0.925 0.040 10 94842866 missense variant A/G snv 0.95 0.010 1.000 1 2017 2017
dbSNP: rs3825876
rs3825876
SLC28A1
2 0.925 0.040 15 84892637 intron variant G/A snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs387906717
rs387906717
WAS
6 0.827 0.120 X 48688403 missense variant T/C snv 0.010 1.000 1 2009 2009
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: rs4135385
rs4135385
CTNNB1
14 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs4148396
rs4148396
ABCC2
2 0.925 0.040 10 99832187 intron variant T/C snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs4150558
rs4150558
GTF2H1
3 0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs4240803
rs4240803
SLC7A5 ; LOC107987237
4 0.851 0.240 16 87855597 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4533622
rs4533622
CTNNB1
6 0.807 0.240 3 41200847 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs546229463
rs546229463
FCGR3B
2 0.925 0.040 1 161629912 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs6478317
rs6478317 		3 0.882 0.120 9 117701903 upstream gene variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs6498588
rs6498588
LOC107984869
2 0.925 0.040 16 15938949 intergenic variant A/T snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs6790
rs6790
SNORD81 ; SNORD79 ; SNORD80 ; SNORD47 ; SNORD44 ; GAS5 ; SNORD78
7 0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs693955
rs693955
SLC29A1
2 0.925 0.040 6 44224183 intron variant A/C snv 0.85 0.010 1.000 1 2015 2015
dbSNP: rs7091672
rs7091672 		2 0.925 0.040 10 118836909 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
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: rs747199
rs747199
SLC29A1
2 0.925 0.040 6 44226608 intron variant G/C snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs7608692
rs7608692
CASP8
2 0.925 0.040 2 201246236 intron variant G/A snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs775729712
rs775729712
DCTD
3 0.925 0.040 4 182915501 missense variant G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 < 0.001 1 2013 2013
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 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2012 2012
dbSNP: rs879255237
rs879255237
VPS45
7 0.807 0.160 1 150077763 missense variant C/A snv 0.010 1.000 1 2013 2013