Disease: Anemia, Hemolytic, Congenital ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556323334
rs1556323334
Entrez Id: 286410
Gene Symbol: ATP11C
ATP11C
CUI: C0002881
Disease:
Anemia, Hemolytic, Congenital 		0.010 GeneticVariation BEFREE ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking. 31253392 2019