Source: ALL
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: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.800 0.917 36 2007 2018
dbSNP: rs10993994
rs10993994
MSMB
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.800 1.000 30 2008 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.800 0.857 28 2007 2017
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.800 0.950 20 2007 2018
dbSNP: rs4430796
rs4430796
HNF1B
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.800 1.000 18 2008 2018
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.800 1.000 14 2002 2015
dbSNP: rs2735839
rs2735839 		7 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 0.800 0.923 13 2008 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.727 11 2004 2016
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.100 0.900 10 2000 2018
dbSNP: rs1859962
rs1859962
CASC17
4 0.882 0.160 17 71112612 intron variant G/T snv 0.56 0.770 0.900 10 2008 2016
dbSNP: rs6983561
rs6983561
PCAT1 ; CASC19
3 0.925 0.080 8 127094635 intron variant A/C snv 0.17 0.780 1.000 9 2008 2017
dbSNP: rs4242382
rs4242382 		9 0.763 0.240 8 127505328 intergenic variant A/G;T snv 0.740 1.000 8 2008 2015
dbSNP: rs7501939
rs7501939
HNF1B
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.740 1.000 8 2008 2018
dbSNP: rs10090154
rs10090154 		7 0.807 0.160 8 127519892 intergenic variant T/A;C snv 0.070 1.000 7 2008 2017
dbSNP: rs12653946
rs12653946
CTD-2194D22.4
5 0.882 0.080 5 1895715 intron variant C/T snv 0.43 0.740 1.000 7 2010 2013
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.070 0.714 7 2009 2019
dbSNP: rs339331
rs339331
RFX6
4 0.882 0.080 6 116888889 intron variant T/C snv 0.28 0.760 0.857 7 2010 2016
dbSNP: rs7837688
rs7837688 		2 0.925 0.080 8 127527115 intergenic variant T/G snv 0.91 0.710 1.000 7 2007 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.667 6 2007 2016
dbSNP: rs1456315
rs1456315
PCAT1 ; PRNCR1 ; CASC19
9 0.790 0.200 8 127091692 non coding transcript exon variant T/A;C snv 0.720 1.000 6 2010 2014
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.060 1.000 6 2011 2019
dbSNP: rs4242384
rs4242384 		3 0.882 0.160 8 127506309 regulatory region variant C/A snv 0.88 0.700 1.000 6 2008 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.667 6 2007 2016
dbSNP: rs10486567
rs10486567
JAZF1
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.050 0.800 5 2010 2014
dbSNP: rs10896449
rs10896449 		7 0.827 0.200 11 69227200 intergenic variant A/G snv 0.53 0.720 1.000 5 2008 2013