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: rs3021088
rs3021088
COX1 ; ND2
2 0.925 0.120 MT 5460 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs16986825
rs16986825
ZNRF3
1 1.000 0.120 22 28904318 intron variant C/T snv 0.13 0.700 1.000 2 2014 2018
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs2073389
rs2073389
SMARCB1
2 0.925 0.120 22 23791306 intron variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs2074733
rs2074733
SF3A1
2 0.925 0.120 22 30342598 non coding transcript exon variant T/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs450960
rs450960
MICAL3
1 1.000 0.120 22 17833538 intron variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs5757573
rs5757573
PDGFB
2 0.925 0.120 22 39237617 intron variant C/T snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs5768709
rs5768709
TAFA5
2 0.925 0.120 22 48533757 intron variant A/G snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs6001516
rs6001516 		2 0.925 0.120 22 39248198 intron variant C/T snv 6.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs1547374
rs1547374
LOC105372815
2 0.925 0.120 21 42358786 downstream gene variant A/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1630747
rs1630747
SLC5A3 ; MRPS6
2 0.925 0.120 21 34085692 intron variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs372883
rs372883
BACH1
5 0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs2585428
rs2585428
CYP24A1
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs2762932
rs2762932
CYP24A1
3 0.882 0.200 20 54151852 downstream gene variant T/C snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs6073450
rs6073450
LINC01620
1 1.000 0.120 20 44458008 intron variant G/A snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs6127119
rs6127119
CYP24A1
2 0.925 0.120 20 54162543 intron variant C/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs757748401
rs757748401
NFATC2
3 0.925 0.120 20 51542465 missense variant C/A;T snv 5.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.060 0.833 6 2007 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 0.833 6 2006 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 1.000 4 2006 2016
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.040 1.000 4 2015 2019
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2016 2019
dbSNP: rs11085754
rs11085754
SMARCA4
2 0.925 0.120 19 11017920 intron variant A/G snv 0.41 0.010 1.000 1 2015 2015
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 2019 2019
dbSNP: rs139599857
rs139599857
XRCC1
3 0.882 0.120 19 43545922 missense variant C/G snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014