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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 < 0.001 2 2014 2016
dbSNP: rs2298881
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 1.000 2 2015 2015
dbSNP: rs4150441
rs4150441
ERCC3
0.882 0.040 2 127283339 intron variant T/C snv 0.37
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood 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: C1332986
Disease: Childhood Osteosarcoma
Childhood 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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 1.000 2 2015 2019
dbSNP: rs1005464
rs1005464
BMP2
0.882 0.040 20 6775501 intron variant G/A snv 0.19
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs12602273
rs12602273
TP53
0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs1295925
rs1295925
VMP1
0.882 0.040 17 59832902 intron variant T/C snv 0.60
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs16948627
rs16948627
ITGA3
0.882 0.040 17 50063432 intron variant C/A;T snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
IL10 ; IL19
0.507 0.800 1 206773552 intron variant T/C snv 0.41
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs1872328
rs1872328
ACYP2
0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs1989839
rs1989839
RASSF1 ; ZMYND10
0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs2075559
rs2075559
COL1A1
0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs2236947
rs2236947
RASSF1
0.882 0.040 3 50334001 intron variant C/A snv 0.39
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs235764
rs235764
BMP2
0.882 0.040 20 6773599 intron variant G/A snv 0.31
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs243865
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs3787547
rs3787547
BCAS1
0.882 0.040 20 54067899 intron variant G/A snv 0.36
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs4150506
rs4150506
ERCC3
0.851 0.120 2 127262970 intron variant G/A snv 0.18
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs4778889
rs4778889
IL16
0.683 0.480 15 81296654 intron variant T/C snv 0.24
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs4789223
rs4789223
RECQL5 ; SMIM6
0.851 0.120 17 75645819 intron variant G/A snv 0.46
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs6973569
rs6973569
NPSR1-AS1
0.851 0.080 7 34583412 intron variant G/A snv 4.7E-02
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2013 2013