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: rs729147
rs729147
ADH7
3 0.882 0.080 4 99412110 downstream gene variant G/A snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs2979704
rs2979704
NEFL
5 0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs10055201
rs10055201
IL31RA
3 0.882 0.080 5 55865274 intron variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs17489363
rs17489363
BARD1 ; SNHG31
3 0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74 0.020 1.000 2 2018 2019
dbSNP: rs3768707
rs3768707
BARD1
3 0.882 0.080 2 214780411 intron variant A/G snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs391957
rs391957
HSPA5 ; LOC107987127
10 0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.030 1.000 3 2009 2018
dbSNP: rs34330
rs34330
CDKN1B ; GPR19
15 0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs11994014
rs11994014 		5 0.827 0.200 8 24944767 intergenic variant A/G snv 0.70 0.020 1.000 2 2014 2018
dbSNP: rs4796030
rs4796030
LIG3
6 0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2018 2018
dbSNP: rs6939340
rs6939340
CASC15 ; NBAT1
4 0.851 0.160 6 22139775 intron variant A/G snv 0.62 0.040 1.000 4 2008 2017
dbSNP: rs1501899
rs1501899
CASR
8 0.790 0.240 3 122188481 intron variant A/G snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2016 2016
dbSNP: rs9295536
rs9295536
CASC15
3 0.882 0.080 6 22131700 intron variant C/A snv 0.58 0.030 1.000 3 2016 2017
dbSNP: rs514049
rs514049
ADAM10
6 0.827 0.160 15 58750164 intron variant C/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2018 2018
dbSNP: rs9653226
rs9653226
MYCN ; MYCNOS
3 0.882 0.080 2 15939632 intron variant C/T snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs221634
rs221634
LIN28B
4 0.851 0.080 6 105080213 3 prime UTR variant T/A snv 0.52 0.020 1.000 2 2016 2017
dbSNP: rs1027702
rs1027702 		3 0.882 0.080 1 161743067 intergenic variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs6441201
rs6441201
RSRC1
3 0.882 0.080 3 158460535 intron variant G/A snv 0.51 0.020 1.000 2 2017 2018
dbSNP: rs3788266
rs3788266
S100B
12 0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs10840002
rs10840002 		3 0.882 0.080 11 8221479 downstream gene variant A/G snv 0.49 0.040 1.000 4 2016 2020