rs375014127, ANO5

N. diseases: 5
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.
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
49 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 1.000 4 2010 2015
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0
Fatty replacement of skeletal muscle
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
4 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0