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: rs10737416
rs10737416
1 1.000 0.040 1 224887055 intergenic variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1238539471
rs1238539471
2 1.000 0.040 16 50710637 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1367967034
rs1367967034
2 1.000 0.040 16 50707959 splice region variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs16910526
rs16910526
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs17114808
rs17114808
2 0.925 0.040 10 102631528 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17582214
rs17582214
1 1.000 0.040 9 119676531 regulatory region variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2012 2018
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs2069727
rs2069727
9 0.763 0.320 12 68154443 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2232365
rs2232365
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs2278293
rs2278293
3 0.882 0.040 7 128400698 non coding transcript exon variant C/T snv 0.47 0.010 < 0.001 1 2018 2018
dbSNP: rs2278294
rs2278294
3 0.882 0.080 7 128400645 non coding transcript exon variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs2302217
rs2302217
1 1.000 0.040 19 498524 synonymous variant A/C;G snv 1.6E-05; 0.51 0.010 1.000 1 2009 2009
dbSNP: rs2310241
rs2310241
1 1.000 0.040 2 102225489 intron variant A/C snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2014 2019
dbSNP: rs3004070
rs3004070
1 1.000 0.040 6 39902176 3 prime UTR variant T/A snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs3092920
rs3092920
2 0.925 0.160 X 136661832 downstream gene variant G/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs3092936
rs3092936
2 1.000 0.040 X 136654046 intron variant T/C snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs3092952
rs3092952
3 0.925 0.160 X 136644791 upstream gene variant A/G snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs337629
rs337629
1 1.000 0.040 4 38633737 intron variant A/G;T snv 0.010 1.000 1 2012 2012