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: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.710 1.000 1 2013 2017
dbSNP: rs11064392
rs11064392
CD4
1.000 0.160 12 6789226 intron variant A/G snv 0.14
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2010 2010
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2017 2017
dbSNP: rs1242982981
rs1242982981
CLEC12A
0.851 0.160 12 9984989 missense variant C/T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2013 2013
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: 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: rs711613
rs711613
CRBN
1.000 0.160 3 3178805 intron variant T/C snv 0.51
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2016 2016
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: 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: 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: 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: rs143267032
rs143267032
CUX1
1.000 0.160 7 102028117 missense variant C/G snv 2.8E-05 2.8E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2008 2008
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2009 2009
dbSNP: rs1934951
rs1934951
CYP2C8
0.925 0.160 10 95038791 intron variant C/T snv 0.24
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2013 2013
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
dbSNP: rs1049633
rs1049633
DDR1
1.000 0.160 6 30899750 3 prime UTR variant G/A snv 7.6E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2017 2017
dbSNP: rs4487645
rs4487645
DNAH11
0.882 0.200 7 21898622 intron variant C/A;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.810 1.000 1 2011 2014
dbSNP: rs6746082
rs6746082
DTNB ; DTNB-AS1
1.000 0.160 2 25436375 intron variant A/C;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.810 1.000 1 2011 2014
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: rs3815768
rs3815768
ELL2
1.000 0.160 5 95900755 missense variant C/T snv 0.27 0.29
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2015 2015
dbSNP: rs759412116
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 < 0.001 1 2011 2011
dbSNP: rs1801274
rs1801274
FCGR2A
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2007 2007
dbSNP: rs2297480
rs2297480
FDPS
0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2011 2011
dbSNP: rs121909631
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 < 0.001 1 2006 2006
dbSNP: rs746082633
rs746082633
FGFR1
0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 < 0.001 1 2006 2006