RS115883468 DOK7

Health Risk Chr 4:3473617 snv missense variant
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Associated Conditions
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases
Population Frequencies
gnomAD ALL
100%
1kG AFR
0.1%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in DOK7
rs606231128 rs606231129 rs606231130 rs606231131 rs606231132 rs118203994 rs118203995 rs863223277 rs606231133 rs150376433
Ask Dr. Hemsworth about this variant