RS115534729 SYNE1

Health Risk Chr 6:152236214 snv missense variant
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Associated Conditions
Autosomal recessive ataxia
Beauce type
Emery-Dreifuss muscular dystrophy 4
autosomal dominant
Inborn genetic diseases
Autosomal recessive ataxia
Beauce type
Emery-Dreifuss muscular dystrophy 4
autosomal dominant
Inborn genetic diseases
Population Frequencies
gnomAD ALL
100%
1kG AFR
0.7%
1kG ALL
0.2%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in SYNE1
rs606231134 rs119103243 rs119103244 rs119103245 rs606231135 rs119103248 rs1586285494 rs267600861 rs267600862 rs180727534
Ask Dr. Hemsworth about this variant