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: rs121913297
rs121913297
RB1
2 1.000 0.080 13 48465028 stop gained G/A;T snv 0.700 0
dbSNP: rs137853294
rs137853294
RB1
6 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs1429133479
rs1429133479
MYO18B
1 1.000 0.080 22 25847461 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
5 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 0
dbSNP: rs750078923
rs750078923
MYO18B
1 1.000 0.080 22 25769052 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 2 1991 2016
dbSNP: rs17849781
rs17849781
TP53
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.010 1.000 1 1991 1991
dbSNP: rs397516435
rs397516435
TP53
6 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs1360583020
rs1360583020
PXN
2 1.000 0.080 12 120215202 missense variant G/C snv 4.3E-06 0.010 1.000 1 2003 2003
dbSNP: rs34589476
rs34589476
MET
7 0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03 0.010 1.000 1 2003 2003
dbSNP: rs55985569
rs55985569
MET
3 0.925 0.080 7 116699588 missense variant G/A;T snv 3.7E-03 0.010 1.000 1 2003 2003
dbSNP: rs56391007
rs56391007
MET
16 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.010 1.000 1 2003 2003
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2005 2005
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2012
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs4866
rs4866
NUDT1
5 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs587781495
rs587781495
TP53
1 1.000 0.080 17 7676005 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.030 1.000 3 2007 2013
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.030 1.000 3 2007 2013
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.030 1.000 3 2007 2013
dbSNP: rs4760
rs4760
PLAUR
8 1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11 0.010 1.000 1 2009 2009
dbSNP: rs6104
rs6104
SERPINB2 ; SERPINB10
6 0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28 0.010 1.000 1 2009 2009