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: rs4072037
rs4072037
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs559979281
rs559979281
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs863225422
rs863225422
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.050 1.000 5 2014 2019
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.020 1.000 2 2014 2019
dbSNP: rs138377917
rs138377917
5 0.827 0.160 8 142682113 stop gained G/A snv 2.1E-02 2.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2976391
rs2976391
PSCA ; JRK
7 0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs9297976
rs9297976
PSCA ; JRK
7 0.790 0.160 8 142670817 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 1.000 4 2007 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2010 2019
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2014 2014
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs771184127
rs771184127
9 0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs744166
rs744166
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1555640521
rs1555640521
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2010 2010