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: rs17651
rs17651
ISG15
1 1.000 0.080 1 1014228 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1805094
rs1805094
LEPR
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 < 0.001 1 2013 2013
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: 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: rs2069849
rs2069849
IL6
3 0.882 0.120 7 22731537 missense variant C/G;T snv 4.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs2229579
rs2229579
CNR2
2 0.925 0.120 1 23874672 missense variant G/A;T snv 0.10; 8.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs2288377
rs2288377
IGF1 ; LOC105369944
2 0.925 0.080 12 102480984 intron variant A/G;T snv 0.010 < 0.001 1 2015 2015
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: rs2393799
rs2393799
P2RX7 ; LOC105370032
3 0.882 0.200 12 121132209 upstream gene variant C/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs2566752
rs2566752
WLS ; GNG12-AS1
2 1.000 0.080 1 68191014 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs267607165
rs267607165
TUBB3
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs28377268
rs28377268
PTCH1 ; LOC100507346
2 0.925 0.080 9 95462774 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs297325
rs297325
SOX6
2 0.925 0.120 11 16368048 intron variant T/C;G snv 0.700 1.000 1 2009 2009
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: rs335170
rs335170
PRDM6
2 0.925 0.120 5 123146549 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3755955
rs3755955
IDUA
4 0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3853894
rs3853894
ZBTB4
1 1.000 0.080 17 7467286 5 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
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: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2012 2012
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: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs56116165
rs56116165
COA3 ; WNK4
1 1.000 0.080 17 42796301 missense variant C/G;T snv 4.1E-06; 5.7E-03 0.010 1.000 1 2011 2011
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: rs6831280
rs6831280
IDUA
4 0.925 0.080 4 1002377 missense variant G/A;C snv 0.17 0.010 1.000 1 2019 2019