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: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2018 2018
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 2019 2019
dbSNP: rs1034713634
rs1034713634
VIPR1
1 1.000 0.080 3 42536097 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.020 1.000 2 2016 2020
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11574129
rs11574129
VDR
3 0.882 0.160 12 47843520 3 prime UTR variant A/G snv 1.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2239185
rs2239185
VDR
6 0.807 0.320 12 47850776 intron variant G/A snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs739837
rs739837
VDR
5 0.882 0.200 12 47844438 3 prime UTR variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs757343
rs757343
VDR
6 0.807 0.360 12 47845892 intron variant C/T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs910049
rs910049
TSBP1 ; TSBP1-AS1
8 0.776 0.400 6 32347950 intron variant T/C snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs1800460
rs1800460
TPMT
7 0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2014 2014
dbSNP: rs2857009
rs2857009
TNXB
2 1.000 0.080 6 32051969 intron variant G/C snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2278034
rs2278034
TNK2
1 1.000 0.080 3 195870036 3 prime UTR variant T/C;G snv 0.44; 2.7E-05 0.010 1.000 1 2011 2011
dbSNP: rs20575
rs20575
TNFRSF10A
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2012 2012
dbSNP: rs20576
rs20576
TNFRSF10A
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2012 2012
dbSNP: rs4242392
rs4242392
TNFRSF10A
1 1.000 0.080 8 23204120 intron variant T/C snv 0.19 0.010 < 0.001 1 2015 2015
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2016 2019
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.040 1.000 4 2016 2019
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2014 2017
dbSNP: rs1475539937
rs1475539937
TLR9
5 0.882 0.120 3 52223085 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016