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: rs2243248
rs2243248
IL4
9 0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv 0.020 1.000 2 2007 2015
dbSNP: rs2305948
rs2305948
KDR
18 0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11 0.020 1.000 2 2012 2016
dbSNP: rs603965
rs603965
CCND1
14 0.732 0.440 11 69648142 splice region variant G/A snv 0.020 1.000 2 2017 2019
dbSNP: rs648044
rs648044
ZBTB16 ; LOC101928875
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs1034749666
rs1034749666
OLIG2
9 0.776 0.160 21 33027257 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1044129
rs1044129
RYR3 ; AVEN
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2005 2005
dbSNP: rs1048771
rs1048771
RAD54L ; LRRC41
1 1.000 0.040 1 46278228 synonymous variant C/A;T snv 4.0E-06; 0.15 0.010 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs10494090
rs10494090
SLC25A24
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1057519902
rs1057519902
H3-3A
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1058319
rs1058319
SLC2A4RG
2 1.000 0.040 20 63743036 3 prime UTR variant C/A;T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs10852606
rs10852606
HEATR3
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11571378
rs11571378
RAD52
2 0.925 0.080 12 950115 intron variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11598018
rs11598018
STN1
2 1.000 0.040 10 103901557 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1197458016
rs1197458016
SNAPC3 ; PSIP1
1 1.000 0.040 9 15466782 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs12021720
rs12021720
DBT
3 0.925 0.160 1 100206504 missense variant T/A;C snv 0.92 0.700 1.000 1 2009 2009
dbSNP: rs1214285376
rs1214285376
XRCC1
8 0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12615793
rs12615793
ACYP2
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1345354331
rs1345354331
GPX1
1 1.000 0.040 3 49358221 missense variant A/C;T snv 6.8E-06; 6.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1373481065
rs1373481065
GADD45A
6 0.827 0.040 1 67687668 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017