Source: BEFREE

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: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2011 2011
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2011 2011
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.100 0.833 12 2012 2018
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.100 0.818 11 2012 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.080 0.625 8 2012 2018
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2012 2015
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs1226994105
rs1226994105
PIK3CG
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
CTNNB1
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs1800449
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs56307747
rs56307747
ELN ; ELN-AS1
0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs758300152
rs758300152
FSCB
0.882 0.040 14 44504889 missense variant T/C;G snv 1.6E-05; 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2013 2018
dbSNP: rs1800541
rs1800541
EDN1
0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2013 2014
dbSNP: rs2070699
rs2070699
EDN1
0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 0.500 2 2013 2014
dbSNP: rs1057519736
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013
dbSNP: rs199812774
rs199812774
MDM2
0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879
MDM2
0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013
dbSNP: rs29001322
rs29001322
MMS19
0.882 0.040 10 97462918 non coding transcript exon variant A/C;G snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013
dbSNP: rs3212227
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013
dbSNP: rs6973569
rs6973569
NPSR1-AS1
0.851 0.080 7 34583412 intron variant G/A snv 4.7E-02
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013