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: 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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.040 0.750 4 2007 2019
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.040 0.750 4 2015 2018
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.030 0.667 3 2017 2018
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: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2015 2019
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 0.500 2 2007 2009
dbSNP: rs1690916
rs1690916
MDM2
0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 0.500 2 2014 2016
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: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 0.500 2 2015 2017
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: rs1906953
rs1906953
GRM4
0.882 0.040 6 34068669 intron variant C/T snv 0.25
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2014 2016
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: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 < 0.001 2 2014 2016
dbSNP: rs2298881
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2015 2015
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2011 2019
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2007 2012
dbSNP: rs4148416
rs4148416
ABCC3
0.882 0.040 17 50676062 synonymous variant C/T snv 8.7E-02 0.10
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2014 2015
dbSNP: rs4150441
rs4150441
ERCC3
0.882 0.040 2 127283339 intron variant T/C snv 0.37
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2016 2017
dbSNP: rs454006
rs454006
PRKCG
0.882 0.040 19 53886867 intron variant T/C snv 0.36
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2014 2015
dbSNP: rs7034162
rs7034162
NFIB
0.882 0.040 9 14190288 intron variant A/T snv 0.81
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2015 2019
dbSNP: rs780673045
rs780673045
MDM2
0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 1999 2004
dbSNP: rs820196
rs820196
RECQL5 ; SMIM5
0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2014 2015