RS121912707 ALDH7A1

Health Risk Chr 5:126552058 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Pyridoxine-dependent epilepsy
Seizure
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
Pyridoxine-dependent epilepsy
Seizure
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
99.9%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in ALDH7A1
rs121912708 rs779494572 rs1561672504 rs121912709 rs387906574 rs121912710 rs121912711 rs201948406 rs794727058 rs375491094
Ask Dr. Hemsworth about this variant