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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.080 0.750 8 2003 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.070 1.000 7 2000 2019
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.030 0.667 3 2003 2008
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2009 2009
dbSNP: rs145738773
rs145738773
CASP9
1.000 0.160 1 15504663 synonymous variant G/A snv 4.4E-05 1.0E-04
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2008 2008
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: 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: rs2228145
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2012 2012
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: 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: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2009 2009
dbSNP: rs8192284
rs8192284
IL6R
0.724 0.720 1 154454494 missense variant A/C;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2016 2016
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: rs1250801605
rs1250801605
CASP10
1.000 0.160 2 201185809 missense variant G/A snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2008 2008
dbSNP: rs12621278
rs12621278
ITGA6
0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2011 2011
dbSNP: rs201478192
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2007 2007
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: rs559979934
rs559979934
CASP10
1.000 0.160 2 201185838 missense variant C/G;T snv 4.8E-05 2.1E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2009 2009
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: 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: 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: rs75002266
rs75002266
ORC4
0.827 0.160 2 147939241 missense variant G/A snv 3.2E-03 3.0E-03
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2009 2009
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: rs79480871
rs79480871 		0.925 0.160 2 24471603 intergenic variant C/T snv 9.3E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2017 2017