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: 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: rs2067079
rs2067079
SNORD81 ; SNORD79 ; SNORD80 ; SNORD47 ; SNORD44 ; GAS5 ; SNORD77 ; SNORD78 ; SNORA103
7 0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2017 2017
dbSNP: rs9990999
rs9990999
DCTD
2 0.925 0.040 4 182902820 intron variant G/A snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs775729712
rs775729712
DCTD
3 0.925 0.040 4 182915501 missense variant G/C snv 0.010 1.000 1 2010 2010
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: rs11719165
rs11719165 		2 0.925 0.040 3 194865359 intergenic variant T/C snv 0.53 0.010 1.000 1 2012 2012
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: rs2307486
rs2307486
APEX1 ; OSGEP
7 0.790 0.240 14 20456045 missense variant A/G snv 7.4E-03 2.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2012 2019
dbSNP: rs60369023
rs60369023
CDA
4 0.851 0.240 1 20604981 missense variant G/A snv 2.6E-04 1.5E-04 0.010 1.000 1 2007 2007
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: rs149104283
rs149104283
SLCO1B3-SLCO1B7
4 0.882 0.040 12 20930928 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs5925720
rs5925720
DDX53 ; PTCHD1-AS
3 0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02 0.010 1.000 1 2016 2016
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: 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: 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: rs1610696
rs1610696
HLA-G
2 0.925 0.040 6 29831026 3 prime UTR variant C/G snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs2074549
rs2074549
VCP
2 0.925 0.040 9 35061506 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2305482
rs2305482
PSMD3
4 0.851 0.200 17 39984674 intron variant A/C snv 0.57 0.010 1.000 1 2015 2015
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: 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: 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: rs747199
rs747199
SLC29A1
2 0.925 0.040 6 44226608 intron variant G/C snv 0.15 0.010 1.000 1 2015 2015