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: rs648044
rs648044
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs75061358
rs75061358
4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 2 2015 2017
dbSNP: rs10852606
rs10852606
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11233250
rs11233250
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs11979158
rs11979158
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs12230172
rs12230172
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs12752552
rs12752552
4 0.882 0.040 1 64763616 intron variant T/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs1801591
rs1801591
4 0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs1805389
rs1805389
4 0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs1920116
rs1920116
5 0.882 0.040 3 169862183 intron variant G/A snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs2235573
rs2235573
4 0.882 0.040 22 38081923 synonymous variant G/A snv 0.47 0.46 0.700 1.000 1 2017 2017
dbSNP: rs2252586
rs2252586
5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs2562152
rs2562152
4 0.882 0.040 16 73898 intron variant A/T snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs3851634
rs3851634
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs59060240
rs59060240
4 0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs63749993
rs63749993
8 0.882 0.200 2 47476424 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs723527
rs723527
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs12021720
rs12021720
DBT
3 0.925 0.160 1 100206504 missense variant T/A;C snv 0.92 0.700 1.000 1 2009 2009
dbSNP: rs12803321
rs12803321
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 2 2015 2017
dbSNP: rs10131032
rs10131032
2 1.000 0.040 14 32780875 intron variant G/A snv 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10494090
rs10494090
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10924303
rs10924303
2 1.000 0.040 1 245683732 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs10924690
rs10924690
2 1.000 0.040 1 246320481 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs11163687
rs11163687
2 1.000 0.040 1 83199436 intergenic variant A/G snv 9.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs11166389
rs11166389
2 1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2009 2009