RS113994149 TSEN2

Health Risk Chr 3:12516626 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Pontocerebellar hypoplasia type 2B
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 2B
Pontoneocerebellar hypoplasia
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.2%
1kG SAS
100%
Other Variants in TSEN2
rs146117200 rs145142315 rs111535594 rs113981920 rs75288720 rs148549222 rs886037738 rs886037739 rs730880294 rs797046052
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