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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2005 2005
dbSNP: rs2971030
rs2971030
LOC105375146
2 0.925 0.080 7 9966714 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs34796998
rs34796998
LOC105371829
1 1.000 0.040 17 52230513 intergenic variant C/G snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs4149579
rs4149579
TNFRSF1A
1 1.000 0.040 12 6338191 intron variant C/T snv 5.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs4362541
rs4362541
LINC02831 ; LOC105374786
1 1.000 0.040 2 67615734 intron variant A/T snv 0.87 0.700 1.000 1 2019 2019
dbSNP: rs4676893
rs4676893 		3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs4721096
rs4721096
MAD1L1 ; LOC100127955
1 1.000 0.040 7 1837675 intron variant T/C snv 0.84 0.700 1.000 1 2019 2019
dbSNP: rs4855094
rs4855094
PIK3CA
1 1.000 0.040 3 179160189 intron variant G/A snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs4965272
rs4965272
ADAMTS17
1 1.000 0.040 15 100044534 intron variant T/A;G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2009 2009
dbSNP: rs597808
rs597808
ATXN2
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs648802
rs648802
PERP
1 1.000 0.040 6 138092196 missense variant G/C;T snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs7141987
rs7141987
MEG8 ; MIR323A ; MIR329-1 ; MIR329-2 ; MIR758 ; MIR1197
2 0.925 0.080 14 101025887 intron variant T/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs72771256
rs72771256 		1 1.000 0.040 5 83588743 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7282609
rs7282609
C21orf62-AS1 ; LOC105377136
1 1.000 0.040 21 32906849 intron variant A/G snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs74652506
rs74652506
SNRK ; ANO10
1 1.000 0.040 3 43402386 intron variant C/T snv 9.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs7552188
rs7552188
DPYD
1 1.000 0.040 1 97838601 intron variant T/C snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs7609078
rs7609078
AFF3
1 1.000 0.040 2 99873901 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs7613875
rs7613875 		2 1.000 0.040 3 49934081 upstream gene variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7644468
rs7644468
EPHA6
1 1.000 0.040 3 97291143 intron variant T/C snv 1.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs7763910
rs7763910
BTN2A1 ; LOC285819
1 1.000 0.040 6 26472427 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs809955
rs809955
MAML3
2 1.000 0.040 4 139953606 intron variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs9257809
rs9257809
OR5V1 ; OR12D3
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.010 1.000 1 2017 2017