RS121912708 ALDH7A1

Health Risk Chr 5:126583996 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
Pyridoxine-dependent epilepsy
Seizure
Ventriculomegaly
See cases
Inborn genetic diseases
Pyridoxine-dependent epilepsy
Seizure
Ventriculomegaly
See cases
Inborn genetic diseases
Population Frequencies
gnomAD ALL
0%
Other Variants in ALDH7A1
rs121912707 rs779494572 rs1561672504 rs121912709 rs387906574 rs121912710 rs121912711 rs201948406 rs794727058 rs375491094
Ask Dr. Hemsworth about this variant