Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142775522
rs142775522
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1462060431
rs1462060431
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553231217
rs1553231217
T 0.700 CausalMutation CLINVAR

dbSNP: rs1557230573
rs1557230573
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556323334
rs1556323334
0.010 GeneticVariation BEFREE ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking. 31253392

2019

dbSNP: rs1193184183
rs1193184183
0.010 GeneticVariation BEFREE WES unexpectedly identified gene mutations known to cause congenital hemolytic anemia in two patients: canonical G6PD p.Val394Leu mutation and SPTA1 p.Arg28His mutation. 29936674

2018

dbSNP: rs121918641
rs121918641
0.010 GeneticVariation BEFREE WES unexpectedly identified gene mutations known to cause congenital hemolytic anemia in two patients: canonical G6PD p.Val394Leu mutation and SPTA1 p.Arg28His mutation. 29936674

2018

dbSNP: rs137852335
rs137852335
0.010 GeneticVariation BEFREE WES unexpectedly identified gene mutations known to cause congenital hemolytic anemia in two patients: canonical G6PD p.Val394Leu mutation and SPTA1 p.Arg28His mutation. 29936674

2018