RS111033667 GALT

Health Risk Chr 9:34647654 snv splice acceptor variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
Population Frequencies
gnomAD ALL
100%
Other Variants in GALT
rs111033695 rs111033800 rs111033647 rs2070074 rs75391579 rs111033663 rs111033715 rs111033792 rs111033690 rs111033721
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