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: rs579459
rs579459
28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.800 1.000 6 2013 2019
dbSNP: rs7528419
rs7528419
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.800 1.000 6 2012 2019
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.800 1.000 6 2010 2019
dbSNP: rs9987289
rs9987289
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.800 1.000 6 2010 2019
dbSNP: rs1065853
rs1065853
5 19 44909976 non coding transcript exon variant G/A;C;T snv 0.800 1.000 5 2013 2019
dbSNP: rs12654264
rs12654264
7 0.925 0.120 5 75352778 intron variant A/T snv 0.38 0.800 1.000 5 2008 2019
dbSNP: rs12670798
rs12670798
5 1.000 0.040 7 21567734 intron variant T/C snv 0.26 0.800 1.000 5 2009 2019
dbSNP: rs1801689
rs1801689
7 17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05 0.800 1.000 5 2012 2018
dbSNP: rs2072183
rs2072183
6 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.800 1.000 5 2010 2019
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.800 1.000 5 2008 2013
dbSNP: rs2131925
rs2131925
6 1 62560271 intron variant G/T snv 0.57 0.800 1.000 5 2010 2019
dbSNP: rs3757354
rs3757354
3 6 16127176 upstream gene variant C/T snv 0.27 0.800 1.000 5 2010 2019
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.800 1.000 5 2010 2019
dbSNP: rs514230
rs514230
3 1 234722850 upstream gene variant A/T snv 0.62 0.800 1.000 5 2010 2019
dbSNP: rs635634
rs635634
22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.800 1.000 5 2010 2019
dbSNP: rs688
rs688
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.800 1.000 5 2012 2019
dbSNP: rs7206971
rs7206971
3 17 47347749 intron variant G/A;T snv 0.47 0.800 1.000 5 2010 2019
dbSNP: rs8017377
rs8017377
3 14 24414681 missense variant G/A snv 0.37 0.34 0.800 1.000 5 2010 2019
dbSNP: rs10102164
rs10102164
RP1
4 8 54509054 upstream gene variant G/A snv 0.19 0.800 1.000 4 2013 2019
dbSNP: rs11220462
rs11220462
3 11 126374057 intron variant G/A snv 0.12 0.800 1.000 4 2010 2019
dbSNP: rs12027135
rs12027135
3 1 25449242 intron variant A/T snv 0.50 0.800 1.000 4 2010 2019
dbSNP: rs12721109
rs12721109
5 1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02 0.800 1.000 4 2012 2019
dbSNP: rs1564348
rs1564348
3 6 160157828 intron variant T/C snv 0.14 0.800 1.000 4 2010 2019
dbSNP: rs2228671
rs2228671
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 4 2008 2019
dbSNP: rs2328223
rs2328223
3 20 17865277 intergenic variant A/C;G;T snv 0.800 1.000 4 2013 2019