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 0.720 1.000 3 2013 2019
dbSNP: rs2920283
rs2920283
PSCA ; JRK
2 0.925 0.040 8 142675619 intron variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs6458238
rs6458238
PGC
4 0.882 0.080 6 41749967 intron variant G/A;C snv 0.040 1.000 4 2013 2016
dbSNP: rs10739971
rs10739971
5 0.882 0.080 9 94175398 intron variant G/A;C snv 0.020 1.000 2 2014 2014
dbSNP: rs158572
rs158572
4 0.851 0.120 5 60943616 intron variant G/A snv 0.63 0.020 1.000 2 2015 2017
dbSNP: rs158916
rs158916
3 0.882 0.080 5 60949318 intron variant A/G snv 0.15 0.020 1.000 2 2015 2017
dbSNP: rs1917799
rs1917799
4 0.851 0.120 10 49542929 upstream gene variant A/C snv 0.25 0.020 1.000 2 2014 2017
dbSNP: rs2301756
rs2301756
4 0.851 0.120 12 112452972 intron variant A/G snv 0.21 0.020 1.000 2 2009 2009
dbSNP: rs9471643
rs9471643
PGC
6 0.882 0.080 6 41751177 intron variant G/C snv 0.19 0.020 1.000 2 2014 2016
dbSNP: rs1002765
rs1002765
4 0.851 0.080 3 87227912 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1042194
rs1042194
2 1.000 0.040 10 94735727 3 prime UTR variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10505799
rs10505799
2 1.000 0.040 12 16293334 intergenic variant T/C snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs10983755
rs10983755
7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1130233
rs1130233
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2015 2015
dbSNP: rs11536878
rs11536878
5 0.827 0.240 9 117709275 intron variant C/A snv 9.5E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs121224
rs121224
4 0.851 0.080 17 31574981 intron variant G/C snv 0.66 0.010 < 0.001 1 2016 2016
dbSNP: rs121434254
rs121434254
6 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001
dbSNP: rs12229892
rs12229892
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs12423190
rs12423190
1 1.000 0.040 12 112471536 intron variant T/C snv 8.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1440526066
rs1440526066
1 1.000 0.040 5 132679827 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2018 2018
dbSNP: rs17276588
rs17276588
4 0.882 0.120 X 53557457 intron variant G/A snv 9.0E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1886753
rs1886753
1 1.000 0.040 6 40359357 non coding transcript exon variant C/T snv 0.42 0.010 1.000 1 2017 2017