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: rs121909149
rs121909149
SH3BP2
0.925 0.160 4 2831573 missense variant G/A;C snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.020 1.000 2 2012 2014
dbSNP: rs28360457
rs28360457
P2RX7 ; LOC105370032
0.882 0.200 12 121175426 missense variant G/A snv 8.6E-03 1.1E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.020 1.000 2 2012 2012
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2006 2006
dbSNP: rs121908668
rs121908668
LRP5
0.882 0.240 11 68357673 missense variant G/T snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2015 2015
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2018 2018
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2008 2008
dbSNP: rs1335534133
rs1335534133
DMD
1.000 0.080 X 32485069 missense variant G/A snv 9.5E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2005 2005
dbSNP: rs1473998316
rs1473998316
COL1A1
1.000 0.080 17 50195926 synonymous variant A/G snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2007 2007
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2015 2015
dbSNP: rs1653624
rs1653624
P2RX7 ; LOC105370032
0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2012 2012
dbSNP: rs1883832
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2008 2008
dbSNP: rs2073617
rs2073617
TNFRSF11B ; COLEC10
0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2019 2019
dbSNP: rs2230912
rs2230912
P2RX7 ; LOC105370032
0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2012 2012
dbSNP: rs2273073
rs2273073
BMP2
0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2008 2008
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2006 2006
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
0.742 0.480 16 10877045 intron variant G/A snv 0.53
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2012 2012
dbSNP: rs312009
rs312009
LRP5
0.925 0.080 11 68309770 upstream gene variant T/A;C snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2019 2019
dbSNP: rs3736228
rs3736228
LRP5
0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2008 2008
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2010 2010
dbSNP: rs4355801
rs4355801 		0.882 0.120 8 118911634 regulatory region variant A/G;T snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2008 2008
dbSNP: rs4988321
rs4988321
LRP5
0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2019 2019
dbSNP: rs5742905
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2018 2018
dbSNP: rs700518
rs700518
CYP19A1 ; MIR4713HG
0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2013 2013