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: rs10420685
rs10420685
1 1.000 0.080 19 40729215 synonymous variant A/G snv 7.2E-02 9.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2000 2000
dbSNP: rs1049216
rs1049216
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs10877887
rs10877887
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2011 2011
dbSNP: rs12494623
rs12494623
1 1.000 0.080 3 179214763 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs13293512
rs13293512
11 0.763 0.360 9 94167461 intron variant T/C snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs16997517
rs16997517
2 0.925 0.200 22 36937894 missense variant C/T snv 2.6E-02 4.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs2029166
rs2029166
1 1.000 0.080 12 54196315 intergenic variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs2029167
rs2029167
3 0.925 0.080 12 54196349 intergenic variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs2229546
rs2229546
1 1.000 0.080 1 67395837 synonymous variant C/A;G;T snv 0.63; 1.2E-05; 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2229634
rs2229634
4 0.851 0.240 6 33670403 synonymous variant C/A;T snv 4.0E-06; 0.33 0.010 1.000 1 2017 2017
dbSNP: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2010 2010
dbSNP: rs28493229
rs28493229
3 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.010 1.000 1 2012 2012
dbSNP: rs3024656
rs3024656
1 1.000 0.080 16 27358288 intron variant G/A snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs3087386
rs3087386
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs3181224
rs3181224
1 1.000 0.080 5 159313842 intron variant A/G snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs3219218
rs3219218
UNG
4 0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs3219489
rs3219489
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2019 2019
dbSNP: rs3729679
rs3729679
1 1.000 0.080 3 179204642 intron variant A/G snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs3748079
rs3748079
2 0.925 0.160 6 33620370 5 prime UTR variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs3756712
rs3756712
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2015 2015