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: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2006
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs10852151
rs10852151 		1 1.000 0.040 15 91540065 intron variant A/G;T snv 0.700 1.000 1 2017 2017
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: rs11901649
rs11901649
APOB
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2005 2005
dbSNP: rs13337626
rs13337626
TSC2
1 1.000 0.040 16 2075833 missense variant T/C;G snv 7.0E-02 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 2013 2013
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: 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: rs72771256
rs72771256 		1 1.000 0.040 5 83588743 intergenic variant G/A;T snv 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: 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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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: rs13396805
rs13396805 		2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
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