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: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs4978754
rs4978754
ELP1
4 0.851 0.080 9 108884801 intron variant T/C snv 0.92 0.010 1.000 1 2019 2019
dbSNP: rs4645878
rs4645878
BAX
5 0.882 0.120 19 48954681 upstream gene variant A/G snv 0.89 0.010 1.000 1 2015 2015
dbSNP: rs1200399
rs1200399
BAZ1A
2 0.925 0.080 14 34823979 intron variant C/T snv 0.87 0.700 1.000 1 2019 2019
dbSNP: rs784621
rs784621
HEYL
1 1.000 0.080 1 39641113 upstream gene variant T/C snv 0.85 0.010 1.000 1 2017 2017
dbSNP: rs2966952
rs2966952
MTRR ; FASTKD3
1 1.000 0.080 5 7867917 missense variant T/C;G snv 0.82; 4.0E-06 0.85 0.010 1.000 1 2010 2010
dbSNP: rs1571228
rs1571228
SAXO1
1 1.000 0.080 9 18930224 intron variant G/A snv 0.83 0.800 1.000 1 2013 2013
dbSNP: rs1950902
rs1950902
MTHFD1
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 1.000 1 2010 2010
dbSNP: rs344781
rs344781
PLAUR
7 0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs959173
rs959173
CAV1
2 0.925 0.120 7 116542000 intron variant C/T snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs586339
rs586339
KDM4A
2 1.000 0.080 1 43671586 missense variant C/A;G;T snv 0.70 0.78 0.010 1.000 1 2017 2017
dbSNP: rs2564978
rs2564978
CD55
6 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs7372209
rs7372209
CTDSPL ; MIR26A1
7 0.807 0.160 3 37969217 intron variant T/C snv 0.77 0.010 1.000 1 2012 2012
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs4957014
rs4957014
PDCD6 ; AHRR
11 0.752 0.160 5 287899 intron variant T/G snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs6759180
rs6759180
RRM2
1 1.000 0.080 2 10126436 intron variant G/A snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.960 25 2004 2017
dbSNP: rs5753025
rs5753025
HORMAD2
1 1.000 0.080 22 30146168 intron variant T/C snv 0.71 0.010 1.000 1 2014 2014
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 0.030 1.000 3 2011 2014
dbSNP: rs2725264
rs2725264
ABCG2
1 1.000 0.080 4 88104957 intron variant C/T snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1878022
rs1878022
CMKLR1
4 0.851 0.080 12 108305255 intron variant C/T snv 0.70 0.700 1.000 1 2011 2011
dbSNP: rs373572
rs373572
RAD18
6 0.882 0.120 3 8913705 missense variant C/T snv 0.68 0.70 0.010 1.000 1 2008 2008
dbSNP: rs7186128
rs7186128 		2 1.000 0.080 16 16864058 intergenic variant G/A snv 0.70 0.800 1.000 1 2014 2014
dbSNP: rs1340420
rs1340420
TNKS2
3 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 0.010 1.000 1 2015 2015