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: rs12310617
rs12310617
16 0.851 0.120 12 3060327 intergenic variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs12369179
rs12369179
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs12420422
rs12420422
16 0.851 0.120 11 123009573 intergenic variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12509595
rs12509595
10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs12520522
rs12520522
1 5 40494576 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12548864
rs12548864
1 8 127916000 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs1256061
rs1256061
5 14 64236875 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12579302
rs12579302
19 0.851 0.120 12 89656726 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs12811512
rs12811512
3 12 12893277 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs128494
rs128494
4 21 36461960 intron variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs12889267
rs12889267
4 14 21074607 missense variant A/G snv 0.16 0.13 0.700 1.000 1 2016 2016
dbSNP: rs13008603
rs13008603
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs13114738
rs13114738
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1320959
rs1320959
3 6 135116248 regulatory region variant T/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs1331309
rs1331309
2 6 135085040 intron variant T/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1340817
rs1340817
2 13 28656444 upstream gene variant A/G snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs138308793
rs138308793
1 2 111493181 intron variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs143985986
rs143985986
PXK
1 3 58414160 3 prime UTR variant C/- del 0.25 0.700 1.000 1 2016 2016
dbSNP: rs144861591
rs144861591
6 6 26072764 intergenic variant C/T snv 3.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs145611121
rs145611121
1 1 3402268 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs147233090
rs147233090
6 0.925 0.040 15 43735849 intron variant C/T snv 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs147766666
rs147766666
2 16 67795861 intron variant CAAACAAA/-;CAAA;CAAACAAACAAA delins 0.11 0.700 1.000 1 2016 2016
dbSNP: rs149804345
rs149804345
3 3 56710234 intergenic variant AACAAA/-;AACAAAAACAAA;AACAAAAACAAAAACAAA delins 0.700 1.000 1 2016 2016