RS139618850 ANO5

Health Risk Chr 11:22262137 snv missense variant
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Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Population Frequencies
gnomAD ALL
100%
1kG AFR
99.8%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
0.2%
1kG EUR
100%
1kG SAS
100%
Other Variants in ANO5
rs119103234 rs137854524 rs137854521 rs137854523 rs137854529 rs281865464 rs137854528 rs397514736 rs267602823 rs199501657
Ask Dr. Hemsworth about this variant