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: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs6672420
rs6672420
RUNX3 ; LOC105376878
6 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs7521584
rs7521584
MIR429
3 1.000 0.040 1 1168578 upstream gene variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs760805
rs760805
RUNX3 ; LOC107984932
9 0.776 0.240 1 24925432 intron variant A/T snv 0.42 0.010 1.000 1 2009 2009
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1002765
rs1002765
CHMP2B ; MIR4795
4 0.851 0.080 3 87227912 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2016 2016
dbSNP: rs3805246
rs3805246
GAB1
3 0.882 0.120 4 143382955 intron variant G/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.010 1.000 1 2015 2015
dbSNP: rs158572
rs158572
ERCC8 ; NDUFAF2
4 0.851 0.120 5 60943616 intron variant G/A snv 0.63 0.020 1.000 2 2015 2017
dbSNP: rs158916
rs158916
NDUFAF2
3 0.882 0.080 5 60949318 intron variant A/G snv 0.15 0.020 1.000 2 2015 2017
dbSNP: rs1440526066
rs1440526066
IL4 ; LOC105379176
1 1.000 0.040 5 132679827 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2011 2011
dbSNP: rs6878265
rs6878265 		2 1.000 0.040 5 120069960 intergenic variant C/T snv 0.29 0.010 1.000 1 2013 2013
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: 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: rs1886753
rs1886753
TDRG1
1 1.000 0.040 6 40359357 non coding transcript exon variant C/T snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs3789210
rs3789210
PGC
3 0.882 0.080 6 41743584 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4711690
rs4711690
PGC
3 0.882 0.080 6 41741200 missense variant C/G snv 0.19 0.20 0.010 1.000 1 2013 2013
dbSNP: rs61516247
rs61516247
LINC00951 ; TDRG1
1 1.000 0.040 6 40344500 non coding transcript exon variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs6912200
rs6912200
PGC
3 0.925 0.080 6 41750170 intron variant C/T snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs6939861
rs6939861
TFEB ; MIR10398
3 0.882 0.080 6 41735303 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs7747696
rs7747696 		1 1.000 0.040 6 42093217 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs7749023
rs7749023 		1 1.000 0.040 6 42093995 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2017 2017