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: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.030 1.000 3 2011 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: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2013 2018
dbSNP: rs1057519736
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2013 2014
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2015 2019
dbSNP: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2009 2011
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: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2012 2015
dbSNP: rs1800541
rs1800541
EDN1
0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2013 2014
dbSNP: rs2298881
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2015 2015
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: rs4148416
rs4148416
ABCC3
0.882 0.040 17 50676062 synonymous variant C/T snv 8.7E-02 0.10
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		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: C0029463
Disease: Osteosarcoma
Osteosarcoma 		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: C0029463
Disease: Osteosarcoma
Osteosarcoma 		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: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.720 1.000 2 2015 2019
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: 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: rs820196
rs820196
RECQL5 ; SMIM5
0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2014 2015
dbSNP: rs10019009
rs10019009
DMP1 ; LOC105377323
0.851 0.080 4 87661983 missense variant A/G;T snv 4.0E-06; 0.29
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs1005464
rs1005464
BMP2
0.882 0.040 20 6775501 intron variant G/A snv 0.19
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs1052667
rs1052667
ARHGAP35
0.882 0.040 19 47004177 3 prime UTR variant C/G;T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs1056629
rs1056629
MPHOSPH6
0.827 0.120 16 82148499 3 prime UTR variant T/C snv 0.14
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2017 2017