Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28357094
rs28357094
SPP1
0.882 0.160 4 87975645 non coding transcript exon variant T/G snv 0.17
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.050 1.000 5 2012 2017
dbSNP: rs104894790
rs104894790
DMD
0.925 0.160 X 31178751 stop gained G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.010 1.000 1 2012 2012
dbSNP: rs10880
rs10880
LTBP4
0.925 0.160 19 40622404 missense variant C/T snv 0.38 0.39
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.010 1.000 1 2015 2015
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.010 1.000 1 2019 2019
dbSNP: rs1815739
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.010 1.000 1 2017 2017
dbSNP: rs56149945
rs56149945
NR3C1
0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.010 1.000 1 2006 2006