Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225469
rs863225469
RHAG
0.810 GeneticVariation BEFREE Recently, overhydrated hereditary stomatocytosis (OHSt), a rare dominantly inherited hemolytic anemia, was found to be associated with a mutation (Phe65Ser or Ile61Arg) in RHAG. 22012326

2012
dbSNP: rs863225469
rs863225469
RHAG
0.810 GeneticVariation UNIPROT Recently, overhydrated hereditary stomatocytosis (OHSt), a rare dominantly inherited hemolytic anemia, was found to be associated with a mutation (Phe65Ser or Ile61Arg) in RHAG. 22012326

2012
dbSNP: rs863225469
rs863225469
RHAG
0.810 GeneticVariation UNIPROT Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. 21849667

2011
dbSNP: rs863225469
rs863225469
RHAG
0.810 GeneticVariation UNIPROT DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser). 18931342

2009
dbSNP: rs863225469
rs863225469
RHAG
C 0.810 CausalMutation CLINVAR