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: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2006 2006
dbSNP: rs2228479
rs2228479
MC1R
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs587776633
rs587776633
BCL10
1 1.000 0.120 1 85270732 frameshift variant -/T delins 0.700 0
dbSNP: rs587776636
rs587776636
BCL10
1 1.000 0.120 1 85267930 frameshift variant -/A delins 0.700 0
dbSNP: rs587776635
rs587776635
BCL10
1 1.000 0.120 1 85267919 frameshift variant T/- delins 0.700 0
dbSNP: rs587776632
rs587776632
BCL10
2 0.925 0.120 1 85267901 frameshift variant A/-;AAA delins 0.700 0
dbSNP: rs587776634
rs587776634
BCL10
1 1.000 0.120 1 85267788 frameshift variant TGCCTACTTCTAGAACA/- del 0.700 0
dbSNP: rs587776637
rs587776637
BCL10
1 1.000 0.120 1 85267692 inframe deletion TCT/- delins 0.700 0
dbSNP: rs1056503
rs1056503
XRCC4
4 0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23 0.010 1.000 1 2014 2014
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.010 1.000 1 2014 2014
dbSNP: rs2682818
rs2682818
LIN7A ; MIR618 ; LOC105369869
14 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs8094402
rs8094402
MBP
3 0.882 0.120 18 76995493 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs587781386
rs587781386
TP53
3 0.882 0.120 17 7674889 missense variant A/C;G snv 3.2E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764562217
rs764562217
TP53
3 0.882 0.120 17 7673308 stop lost T/G snv 2.3E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs1493202
rs1493202
XKR9
1 1.000 0.120 8 70993352 intron variant T/G snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2007 2007
dbSNP: rs17749561
rs17749561 		2 0.925 0.120 18 63115978 intergenic variant G/A snv 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs4760655
rs4760655
VDR
1 1.000 0.120 12 47900348 intron variant G/A snv 0.72 0.010 < 0.001 1 2011 2011
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs3212961
rs3212961
ERCC1
7 0.827 0.200 19 45419065 intron variant G/A;T snv 1.9E-04; 0.20 0.010 1.000 1 2014 2014
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs1159838942
rs1159838942
RAG1
1 1.000 0.120 11 36574757 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1494555
rs1494555
IL7R
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011