rs201217593, DMD

N. diseases: 8
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Becker Muscular Dystrophy
CUI: C0917713
Disease: Becker Muscular Dystrophy
28 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
49 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
172 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
35 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
Dmd-Associated Dilated Cardiomyopathy
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
164 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
Exophthalmos
CUI: C0015300
Disease: Exophthalmos
10 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
151 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0