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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.060 1.000 6 2009 2019
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.050 0.600 5 2014 2016
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.020 < 0.001 2 2016 2016
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.020 0.500 2 2014 2016
dbSNP: rs10136427
rs10136427
LOC105370572
2 0.925 14 75513546 intergenic variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2015 2015
dbSNP: rs1220597
rs1220597
SPATA13
2 0.925 13 24243875 intron variant C/T snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs13184587
rs13184587
ARSB
2 0.925 5 78910960 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs16962916
rs16962916 		2 0.925 16 13806476 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs17739370
rs17739370 		2 0.925 4 177374275 intergenic variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs2070593
rs2070593
GPX3
6 0.827 0.120 5 151028379 3 prime UTR variant G/A;T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs2248137
rs2248137
CYP24A1
5 0.827 0.160 20 54173204 intron variant C/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs2439302
rs2439302
NRG1
9 0.776 0.200 8 32574851 intron variant G/C snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs3136166
rs3136166
ERCC4
2 0.925 16 13938236 intron variant T/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs3805435
rs3805435
GPX3 ; LOC105378228
3 0.882 0.120 5 151021735 non coding transcript exon variant T/C snv 8.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs3828599
rs3828599
GPX3 ; LOC105378228
5 0.882 0.040 5 151022235 intron variant A/G snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 < 0.001 1 2011 2011
dbSNP: rs7267944
rs7267944 		2 0.925 20 39318791 intergenic variant T/C snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs768827923
rs768827923
PIK3CD
6 0.851 0.080 1 9721816 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs8177412
rs8177412
GPX3 ; LOC105378228
5 0.851 0.160 5 151020526 5 prime UTR variant T/C snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2015 2015
dbSNP: rs927650
rs927650
CYP24A1
9 0.763 0.240 20 54156202 intron variant T/A;C snv 0.010 1.000 1 2012 2012