Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225468
rs863225468
RHAG
0.810 GeneticVariation BEFREE Since half of the expressed RhAG in OHSt most probably corresponds to the mutated form of RhAG, as expected from the OHSt heterozygous status, this dramatic decrease can be therefore related to the loss of function of the Phe65Ser-mutated RhAG monomer. 22012326

2012
dbSNP: rs863225468
rs863225468
RHAG
0.810 GeneticVariation UNIPROT Since half of the expressed RhAG in OHSt most probably corresponds to the mutated form of RhAG, as expected from the OHSt heterozygous status, this dramatic decrease can be therefore related to the loss of function of the Phe65Ser-mutated RhAG monomer. 22012326

2012
dbSNP: rs863225468
rs863225468
RHAG
0.810 GeneticVariation UNIPROT Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. 21849667

2011
dbSNP: rs863225468
rs863225468
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: rs863225468
rs863225468
RHAG
G 0.810 CausalMutation CLINVAR