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: rs28357094
rs28357094
SPP1
3 0.882 0.160 4 87975645 non coding transcript exon variant T/G snv 0.17 0.050 1.000 5 2012 2017
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs12524310
rs12524310 		1 1.000 0.120 6 67669441 intergenic variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1078793
rs1078793 		1 1.000 0.120 7 45127042 regulatory region variant T/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs17567824
rs17567824
ADCY1
1 1.000 0.120 7 45593023 intron variant T/G snv 7.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12547243
rs12547243
ADCY8
1 1.000 0.120 8 130909710 splice region variant A/G snv 0.64 0.58 0.700 1.000 1 2018 2018
dbSNP: rs11017928
rs11017928
DOCK1
1 1.000 0.120 10 127409786 intron variant G/A snv 9.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs149640
rs149640
RGS6
1 1.000 0.120 14 72187545 intron variant G/A;T snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs2725797
rs2725797
LINC02694
1 1.000 0.120 15 38817032 intron variant G/A snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs56979833
rs56979833 		1 1.000 0.120 15 30008518 intron variant A/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs74643788
rs74643788
XYLT1
1 1.000 0.120 16 17268972 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1698919
rs1698919 		1 1.000 0.120 18 77654787 upstream gene variant G/A snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs35693284
rs35693284 		1 1.000 0.120 18 74229912 intron variant G/A snv 7.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs10880
rs10880
LTBP4
2 0.925 0.160 19 40622404 missense variant C/T snv 0.38 0.39 0.010 1.000 1 2015 2015
dbSNP: rs710160
rs710160
SHKBP1
1 1.000 0.120 19 40581585 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs754118
rs754118
PTPN1
3 0.882 0.200 20 50575367 intron variant T/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs398123942
rs398123942
DMD
1 1.000 0.120 X 32454685 stop gained G/A snv 0.700 1.000 7 2008 2018
dbSNP: rs1556503937
rs1556503937
DMD
1 1.000 0.120 X 31323639 stop gained C/T snv 0.700 1.000 5 1999 2017
dbSNP: rs1556806356
rs1556806356
DMD
1 1.000 0.120 X 31679588 splice acceptor variant T/C snv 0.700 1.000 5 2006 2015
dbSNP: rs373286166
rs373286166
DMD
3 0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 5 2007 2016
dbSNP: rs1556040444
rs1556040444
DMD
1 1.000 0.120 X 31180482 splice acceptor variant C/T snv 0.700 1.000 4 2006 2017
dbSNP: rs1385794215
rs1385794215
DMD
1 1.000 0.120 X 31147289 stop gained G/A;T snv 5.5E-06 0.700 1.000 3 1998 2011
dbSNP: rs1556802319
rs1556802319
DMD
1 1.000 0.120 X 32565701 splice donor variant C/A snv 0.700 1.000 3 2006 2014