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 < 0.001 1 2010 2010
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2010 2010
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2014 2014
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs17503908
rs17503908
ATM ; C11orf65
2 1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2394882
rs2394882
POU5F1 ; TCF19
3 0.882 0.080 6 31164872 splice region variant A/C snv 0.64 0.69 0.010 1.000 1 2017 2017
dbSNP: rs2659056
rs2659056
KLK15 ; LOC105372441
2 0.925 0.080 19 50832687 intron variant T/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs2735839
rs2735839 		7 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs4054823
rs4054823 		3 0.882 0.080 17 13721707 intergenic variant T/C snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 < 0.001 1 2010 2010