Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs121908698
rs121908698
CHEK2
0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs122445099
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs137853008
rs137853008
CHEK2
1.000 0.040 22 28734673 missense variant C/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.800 0
dbSNP: rs137853011
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs137853294
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs17883862
rs17883862
CHEK2
0.882 0.080 22 28734468 missense variant G/A;C;T snv 9.1E-04; 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs200917541
rs200917541
CHEK2
0.851 0.200 22 28725270 stop gained G/A;T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs560596101
rs560596101
CHEK2
0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
0.851 0.200 13 48373493 splice donor variant G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs587781705
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs587782401
rs587782401
CHEK2
0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs730881701
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs763098116
rs763098116
TP53
0.925 0.040 17 7673790 missense variant C/A;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs863223301
rs863223301
TP53
0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs876660254
rs876660254
TP53
0.882 0.040 17 7674963 missense variant G/T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 1999 1999
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2003 2003
dbSNP: rs780673045
rs780673045
MDM2
0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 1999 2004
dbSNP: rs79184941
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2004 2004
dbSNP: rs28934578
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.710 1.000 1 2005 2005