RS111033739 GALT

Health Risk Chr 9:34648369 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in GALT
rs111033695 rs111033800 rs111033647 rs2070074 rs75391579 rs111033663 rs111033715 rs111033792 rs111033690 rs111033721
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