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: rs2227982
rs2227982
PDCD1 ; LOC105373977
0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2020 2020
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2020 2020
dbSNP: rs1428
rs1428
MIR17HG
0.882 0.200 13 91354516 non coding transcript exon variant C/A;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs1555902
rs1555902 		1.000 0.160 13 108204435 downstream gene variant C/A snv 0.10
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs1672753
rs1672753
CRBN
0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs4240803
rs4240803
SLC7A5 ; LOC107987237
0.851 0.240 16 87855597 intron variant G/A;C;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs4284505
rs4284505
MIR17 ; MIR18A ; MIR19A ; MIR19B1 ; MIR20A ; MIR17HG
1.000 0.160 13 91349218 non coding transcript exon variant A/G snv 0.51
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs4351714
rs4351714
KDM5B
1.000 0.160 1 202791530 intron variant T/C snv 0.61
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs4533622
rs4533622
CTNNB1
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs61070260
rs61070260
LRP1B
1.000 0.160 2 140846426 intron variant G/A snv 5.7E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs6768972
rs6768972
CRBN
1.000 0.160 3 3180101 upstream gene variant A/C;G snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs7336610
rs7336610
MIR17HG
0.827 0.240 13 91352883 intron variant C/T snv 0.47
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs756168629
rs756168629
LRP1B
1.000 0.160 2 140841050 missense variant C/T snv 4.8E-05 1.4E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs7853346
rs7853346
PTENP1 ; PTENP1-AS
0.851 0.200 9 33676096 non coding transcript exon variant C/G snv 0.28; 1.2E-05 0.32
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2018 2018
dbSNP: rs2043211
rs2043211
CARD8
0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2018 2018
dbSNP: rs3777189
rs3777189
ELL2
1.000 0.160 5 95917404 intron variant C/G snv 0.34
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2018 2018
dbSNP: rs4148388
rs4148388
ABCC2
1.000 0.160 10 99790008 intron variant G/A;C snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2018 2018
dbSNP: rs733618
rs733618
CTLA4
0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2018 2018
dbSNP: rs1049623
rs1049623
DDR1
0.925 0.200 6 30897052 synonymous variant T/C snv 0.47 0.43
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2017 2017