RS12948217 ASPA

Health Risk Chr 17:3494407 snv stop gained
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What This Variant Does
"rs12948217, also known as c.693C&gt
Associated Conditions
Spongy degeneration of central nervous system
Canavan Disease
Familial Form
Inborn genetic diseases
ASPA-related disorder
Spongy degeneration of central nervous system
Canavan Disease
Familial Form
Inborn genetic diseases
ASPA-related disorder
Population Frequencies
gnomAD ALL
0%
1kG AFR
23.4%
1kG ALL
79.6%
1kG AMR
81.6%
1kG EAS
95%
1kG EUR
31%
1kG SAS
22.5%
Other Variants in ASPA
rs28940279 rs104894548 rs28940574 rs104894549 rs104894550 rs2543636027 rs104894551 rs104894552 rs104894553 rs63751297
Ask Dr. Hemsworth about this variant