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: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs121909149
rs121909149
SH3BP2
2 0.925 0.160 4 2831573 missense variant G/A;C snv 0.020 1.000 2 2012 2014
dbSNP: rs1057516036
rs1057516036
COL1A2
4 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121908668
rs121908668
LRP5
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2015 2015
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: rs1335534133
rs1335534133
DMD
1 1.000 0.080 X 32485069 missense variant G/A snv 9.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs1473998316
rs1473998316
COL1A1
1 1.000 0.080 17 50195926 synonymous variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1653624
rs1653624
P2RX7 ; LOC105370032
2 0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs2073617
rs2073617
TNFRSF11B ; COLEC10
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs312009
rs312009
LRP5
2 0.925 0.080 11 68309770 upstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs4355801
rs4355801 		5 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs72645347
rs72645347
COL1A1
10 0.790 0.280 17 50196337 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs72648365
rs72648365
COL1A1
2 0.925 0.240 17 50193990 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs749292
rs749292
CYP19A1 ; MIR4713HG
4 0.851 0.160 15 51266534 intron variant G/A snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2018 2018
dbSNP: rs9525641
rs9525641
TNFSF11
3 0.925 0.080 13 42573888 intron variant T/C snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518930
rs1057518930
COL1A1
3 1.000 0.080 17 50197009 splice donor variant C/G snv 0.700 0
dbSNP: rs1423415130
rs1423415130
XYLT2
6 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0