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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2012 2015
dbSNP: rs10843047
rs10843047 		1 1.000 0.080 12 27979579 intergenic variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
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: rs374838013
rs374838013
DMD
1 1.000 0.080 X 32365046 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 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: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 0
dbSNP: rs67543427
rs67543427
COL1A2
8 0.776 0.240 7 94410457 missense variant G/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: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/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: rs72653170
rs72653170
COL1A1
10 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs72658152
rs72658152
COL1A2
1 1.000 0.080 7 94418508 missense variant G/A snv 0.700 0
dbSNP: rs72659319
rs72659319
COL1A2
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 0
dbSNP: rs768615287
rs768615287
LRP5
2 0.925 0.160 11 68429695 missense variant G/A;T snv 4.0E-06 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: 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: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 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: 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: 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 2018 2018