rs28937581, DYSF

N. diseases: 9
Source: ALL
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.
Miyoshi Muscular Dystrophy 1
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
25 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.700 1.000 16 1998 2014
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
150 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.700 1.000 3 2005 2015
Miyoshi myopathy
CUI: C1850808
Disease: Miyoshi myopathy
19 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
Dysferlinopathy
CUI: C2931687
Disease: Dysferlinopathy
59 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
Facial Paresis
CUI: C0427055
Disease: Facial Paresis
2 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
Paresis
CUI: C0030552
Disease: Paresis
49 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013