Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907359
rs387907359
WNT1 ; WNT10B
2 1.000 0.080 12 48981230 missense variant C/T snv 0.700 0
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.050 1.000 5 2000 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2003 2014
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 < 0.001 2 2003 2007
dbSNP: rs745745346
rs745745346
XYLT2
1 1.000 0.080 17 50354918 missense variant C/T snv 2.1E-05 3.5E-05 0.010 1.000 1 2003 2003
dbSNP: rs3736228
rs3736228
LRP5
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.090 1.000 9 2005 2017
dbSNP: rs4988321
rs4988321
LRP5
4 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 0.040 0.750 4 2005 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2005 2005
dbSNP: rs186628781
rs186628781
DMD
1 1.000 0.080 X 32472271 missense variant T/C;G snv 1.1E-04 0.010 1.000 1 2005 2005
dbSNP: rs61889560
rs61889560
LRP5
1 1.000 0.080 11 68423568 missense variant G/A;T snv 2.5E-03 0.010 1.000 1 2005 2005
dbSNP: rs748838045
rs748838045
DMD
1 1.000 0.080 X 31178676 missense variant T/C snv 5.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs761715369
rs761715369
DMD
1 1.000 0.080 X 32468508 missense variant C/T snv 2.4E-05 9.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs2273073
rs2273073
BMP2
3 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 0.020 0.500 2 2006 2008
dbSNP: rs200928985
rs200928985
DMD
1 1.000 0.080 X 31223056 missense variant C/A;T snv 4.4E-05; 1.1E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs201718067
rs201718067
DMD
1 1.000 0.080 X 31223083 missense variant C/A snv 7.6E-05 6.6E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs235768
rs235768
BMP2
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 < 0.001 1 2006 2006
dbSNP: rs780508132
rs780508132
DMD
2 0.925 0.080 X 32386352 missense variant T/A snv 5.5E-06 1.9E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs1784235
rs1784235
LRP5
1 1.000 0.080 11 68418032 intron variant C/T snv 0.69 0.010 1.000 1 2007 2007
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2007 2007
dbSNP: rs491347
rs491347
LRP5
2 0.925 0.200 11 68402220 intron variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs147522958
rs147522958
SLC22A11
1 1.000 0.080 11 64564318 missense variant G/A snv 4.9E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2008 2008
dbSNP: rs2302685
rs2302685
LRP6 ; BCL2L14
5 0.827 0.240 12 12148964 missense variant C/T snv 0.85 0.84 0.010 < 0.001 1 2008 2008
dbSNP: rs4355801
rs4355801 		5 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 0.010 1.000 1 2008 2008