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: 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: rs1063340
rs1063340
CCL3 ; LOC102724850
1 1.000 0.080 17 36088417 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
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: rs10766197
rs10766197
CYP2R1
6 0.807 0.240 11 14900334 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs10814325
rs10814325
RECK
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs1156458285
rs1156458285
IFNA1
1 1.000 0.080 9 21440717 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs116399066
rs116399066 		1 1.000 0.080 1 143723149 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1178326401
rs1178326401
F2
1 1.000 0.080 11 46728826 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11790131
rs11790131
LOC105375988
6 0.882 0.080 9 19469848 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1236515917
rs1236515917
IFNA13
1 1.000 0.080 9 21367798 missense variant C/G snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1297986
rs1297986
LINC00636
2 1.000 0.080 3 107912675 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1346044973
rs1346044973
TERT
4 0.851 0.160 5 1294158 missense variant G/A snv 1.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs1433099
rs1433099
LDLR ; SPC24
3 0.882 0.160 19 11131982 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs143633948
rs143633948
ARG1
6 0.882 0.080 6 131504454 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1439490
rs1439490 		3 0.882 0.120 22 21351147 upstream gene variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs147257424
rs147257424
MTHFR
2 0.925 0.080 1 11801299 missense variant C/A;G;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016
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
dbSNP: rs1480480967
rs1480480967
IFNA13
2 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1535045
rs1535045
CD40
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019