RS112170670 MPV17

Health Risk Chr 2:27312495 snv missense variant
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Associated Conditions
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease
axonal
type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease
axonal
type 2EE
Population Frequencies
gnomAD ALL
0%
1kG AFR
99.8%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in MPV17
rs121909721 rs121909722 rs121909723 rs121909724 rs397507438 rs147952488 rs267607261 rs267607263 rs267607264 rs267607257
Ask Dr. Hemsworth about this variant