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: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.100 1.000 11 2009 2019
dbSNP: rs833052
rs833052
5 0.827 0.160 6 43755598 intergenic variant A/C snv 0.88 0.040 1.000 4 2007 2019
dbSNP: rs25648
rs25648
11 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 0.030 1.000 3 2010 2019
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 0.667 3 2017 2019
dbSNP: rs10936599
rs10936599
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.020 1.000 2 2014 2019
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.020 1.000 2 2007 2019
dbSNP: rs217727
rs217727
34 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 1.000 2 2016 2019
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2019 2019
dbSNP: rs3834129
rs3834129
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.020 1.000 2 2009 2019
dbSNP: rs12921862
rs12921862
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 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: rs1805105
rs1805105
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2067079
rs2067079
7 0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2073859
rs2073859
4 0.882 0.120 22 31278567 3 prime UTR variant G/A snv 4.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs2278329
rs2278329
4 0.851 0.120 5 38921686 missense variant G/A snv 3.3E-02 2.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2292016
rs2292016
5 0.851 0.120 5 38845758 non coding transcript exon variant G/T snv 1.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2293607
rs2293607
6 0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2735971
rs2735971
7 0.790 0.240 11 2000419 intron variant T/C snv 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: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.010 1.000 1 2019 2019
dbSNP: rs3024270
rs3024270
8 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs370681
rs370681
6 0.807 0.200 16 342461 intron variant C/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs4143815
rs4143815
20 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs6790
rs6790
7 0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs8444
rs8444
3 0.882 0.120 1 150966095 3 prime UTR variant G/A snv 0.35 0.010 1.000 1 2019 2019