RS121917884 SLC19A3
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What This Variant Does
"CLNSIG=5
Associated Conditions
Biotin-responsive basal ganglia disease
Inborn genetic diseases
Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)
Biotin-responsive basal ganglia disease
Biotin-responsive basal ganglia disease
Inborn genetic diseases
Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)
Biotin-responsive basal ganglia disease
Other Variants in SLC19A3