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: rs10843047
rs10843047 		1 1.000 0.080 12 27979579 intergenic variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12425376
rs12425376 		1 1.000 0.080 12 27975692 upstream gene variant T/C snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs17013181
rs17013181
IBSP
1 1.000 0.080 4 87811611 missense variant A/G snv 0.21 0.26 0.010 1.000 1 2015 2015
dbSNP: rs374838013
rs374838013
DMD
1 1.000 0.080 X 32365046 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs42294
rs42294 		1 1.000 0.080 12 27984936 regulatory region variant G/T snv 0.77 0.010 1.000 1 2015 2015
dbSNP: rs73354570
rs73354570
SOX9 ; SOX9-AS1
1 1.000 0.080 17 72125316 3 prime UTR variant A/C snv 6.7E-02 0.010 1.000 1 2020 2020
dbSNP: rs72658152
rs72658152
COL1A2
1 1.000 0.080 7 94418508 missense variant G/A snv 0.700 0
dbSNP: rs1044032
rs1044032
SQOR
2 0.925 0.080 15 45676237 missense variant T/C snv 0.24 0.19 0.020 1.000 2 2015 2018
dbSNP: rs3770748
rs3770748
QPCT
2 0.925 0.120 2 37368382 5 prime UTR variant A/G snv 0.18 0.010 1.000 1 2007 2007
dbSNP: rs768615287
rs768615287
LRP5
2 0.925 0.160 11 68429695 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1054627
rs1054627
IBSP
3 1.000 0.080 4 87811540 missense variant G/A snv 0.30 0.24 0.010 1.000 1 2015 2015
dbSNP: rs374772670
rs374772670
FTH1 ; BEST1
3 0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2015 2015
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: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
4 0.882 0.240 1 209697571 intron variant A/T snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs2274907
rs2274907
ITLN1
5 0.851 0.200 1 160882036 missense variant A/G;T snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs2230911
rs2230911
P2RX7 ; LOC105370032
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1555574303
rs1555574303
COL1A1
7 0.790 0.240 17 50196172 missense variant C/G snv 0.700 0
dbSNP: rs66490707
rs66490707
COL1A1
7 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
dbSNP: rs66555264
rs66555264
COL1A1
7 0.790 0.240 17 50192993 splice donor variant C/A;T snv 0.700 0
dbSNP: rs67879854
rs67879854
COL1A1
7 0.790 0.240 17 50190578 missense variant C/A;T snv 0.700 0
dbSNP: rs72648326
rs72648326
COL1A1
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 0
dbSNP: rs72651642
rs72651642
COL1A1
7 0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs67543427
rs67543427
COL1A2
8 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
dbSNP: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
dbSNP: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 0