RS118066140 CLCN1

Health Risk Chr 7:143330816 snv missense variant
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Associated Conditions
Batten-Turner congenital myopathy
Congenital myotonia
autosomal recessive form
autosomal dominant form
Malignant tumor of esophagus
Acute myeloid leukemia
Batten-Turner congenital myopathy
Congenital myotonia
autosomal recessive form
autosomal dominant form
Malignant tumor of esophagus
Acute myeloid leukemia
Population Frequencies
gnomAD ALL
99.3%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
99.7%
1kG SAS
99.9%
Other Variants in CLCN1
rs121912799 rs80356700 rs1563078827 rs121912801 rs80356694 rs80356696 rs80356690 rs121912805 rs80356702 rs121912807
Ask Dr. Hemsworth about this variant