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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs11789015
rs11789015
BARX1
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2341926
rs2341926 		2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018
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: 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: 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: 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
dbSNP: rs10228350
rs10228350
FOXP2
2 1.000 0.040 7 114420608 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10242223
rs10242223
SDK1
1 1.000 0.040 7 3481941 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10852151
rs10852151 		1 1.000 0.040 15 91540065 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1363119
rs1363119 		2 1.000 0.040 19 18333999 downstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
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: 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: rs1297211
rs1297211 		1 1.000 0.040 21 14956635 intron variant C/G snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2295778
rs2295778
HIF1AN
1 1.000 0.040 10 100536079 missense variant C/G snv 0.25 0.20 0.010 1.000 1 2012 2012
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: 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: rs12268840
rs12268840
MGMT
6 0.827 0.200 10 129527035 intron variant C/T snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs12465911
rs12465911 		2 0.925 0.080 2 150929228 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12974777
rs12974777
KLHL26
1 1.000 0.040 19 18654853 intron variant C/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs13396805
rs13396805 		2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
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: 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