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: rs1906953
rs1906953
GRM4
0.882 0.040 6 34068669 intron variant C/T snv 0.25
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.820 1.000 3 2013 2016
dbSNP: rs17206779
rs17206779
ADAMTS6
0.882 0.040 5 65151950 splice region variant C/G;T snv 0.48
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.810 1.000 2 2013 2014
dbSNP: rs7591996
rs7591996 		0.882 0.040 2 6321289 intron variant A/C snv 0.57
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.810 1.000 2 2013 2014
dbSNP: rs2086452
rs2086452
ADAMTS17
1.000 0.040 15 100188458 intron variant G/A;C snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.800 1.000 1 2013 2013
dbSNP: rs137853008
rs137853008
CHEK2
1.000 0.040 22 28734673 missense variant C/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.800 0
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.720 1.000 2 2007 2012
dbSNP: rs7034162
rs7034162
NFIB
0.882 0.040 9 14190288 intron variant A/T snv 0.81
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.720 1.000 2 2015 2019
dbSNP: rs10208273
rs10208273 		0.882 0.040 2 6383862 intergenic variant A/G snv 0.30
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.710 1.000 2 2013 2014
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
dbSNP: rs12146774
rs12146774
LOC105370025
1.000 0.040 12 119235698 intron variant C/T snv 0.15
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 1.000 1 2018 2018
dbSNP: rs55933544
rs55933544
GLDC
1.000 0.040 9 6534080 missense variant C/T snv 0.21
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 1.000 1 2018 2018
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: 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