RS138884194 DHTKD1

Health Risk Chr 10:12094221 snv stop gained
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Associated Conditions
2-aminoadipic 2-oxoadipic aciduria
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2Q
2-aminoadipic 2-oxoadipic aciduria
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2Q
Population Frequencies
gnomAD ALL
100%
Other Variants in DHTKD1
rs1564385081 rs117225135 rs397514534 rs606231237 rs200788729 rs770649540 rs1554791360 rs149066296 rs760386662 rs1335731178
Ask Dr. Hemsworth about this variant