Source: ALL

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: rs1556962271
rs1556962271
DMD
0.925 0.120 X 31875197 frameshift variant -/AATG delins
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs1557058294
rs1557058294
DMD
1.000 0.120 X 32823294 splice donor variant C/T snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs1557396600
rs1557396600
DMD
0.925 0.120 X 32518006 splice donor variant A/C snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs760251358
rs760251358
DMD
1.000 0.120 X 31209642 missense variant T/C snv 1.6E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 1.000 1 2018 2018