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: rs876660725
rs876660725
ATM
1 1.000 0.080 11 108227859 synonymous variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs2278952
rs2278952
PEMT
2 1.000 0.080 17 17582270 5 prime UTR variant G/A snv 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs373917450
rs373917450
XPC
2 0.925 0.160 3 14158365 missense variant G/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs897453
rs897453
PEMT
2 1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 0.010 1.000 1 2015 2015
dbSNP: rs1650697
rs1650697
DHFR ; MSH3
3 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs529365517
rs529365517
FLVCR1 ; FLVCR1-DT
3 0.925 0.080 1 212858540 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1133400
rs1133400
INPP5A
4 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1232547491
rs1232547491
RHCE
4 0.851 0.120 1 25385838 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs3024496
rs3024496
IL10
6 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs41556519
rs41556519
ERCC2
6 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs886041906
rs886041906
CTLA4
6 0.882 0.200 2 203868002 stop gained G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
9 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.020 1.000 2 2002 2008
dbSNP: rs1057519874
rs1057519874
RAC1
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs872071
rs872071
IRF4
13 0.742 0.360 6 411064 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2002 2002
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.020 1.000 2 2002 2007
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2011 2011
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.030 1.000 3 2011 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.020 1.000 2 2012 2015
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2015 2015
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2012 2012
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2005 2017