Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555366592
rs1555366592
SPTB
CAA 0.700 GeneticVariation CLINVAR

dbSNP: rs1555366607
rs1555366607
SPTB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1566754467
rs1566754467
SPTB
A 0.700 CausalMutation CLINVAR

dbSNP: rs5035
rs5035
SLC4A1
0.020 GeneticVariation BEFREE DNA testing of HS identified two mutation sites on the <i>SLC4A1</i> gene: Exon 3 c.113A>C (Asp 38 Ala) and intron 7 c.609+86G>A. 29434716

2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.020 GeneticVariation BEFREE Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. 19380292

2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.020 GeneticVariation BEFREE To investigate the presence of H63D and C282Y mutations in the HFE gene, patient II-I was found to be compound heterozygous and was the only family member presenting HS and this genetic condition in HFE. 12961032

2003
dbSNP: rs5035
rs5035
SLC4A1
0.020 GeneticVariation BEFREE Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus. 9012689

1997
dbSNP: rs137853583
rs137853583
GPI
0.010 GeneticVariation BEFREE Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction. 31030358

2019
dbSNP: rs2230294
rs2230294
GPI
0.010 GeneticVariation BEFREE Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction. 31030358

2019
dbSNP: rs750820522
rs750820522
ANK1
0.010 GeneticVariation BEFREE This is the first report of ANK1 c.4276C>T (p.R1426*) heterozygous nonsense mutation responsible for HS. 29228571

2017
dbSNP: rs755966603
rs755966603
SPTA1
0.010 GeneticVariation BEFREE This is the first report of ANK1 c.4276C>T (p.R1426*) heterozygous nonsense mutation responsible for HS. 29228571

2017
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.010 GeneticVariation BEFREE In contrast, the author describes here a novel case of PV confirmed at the molecular level in a patient with hereditary spherocytosis by the finding of a Jak2(V617F) mutation. 23588264

2013
dbSNP: rs121912748
rs121912748
SLC4A1
0.010 GeneticVariation BEFREE We have found an important and unusual exception: a novel combination of heterozygous E522K and G701D mutations in the anion exchanger 1 manifested as complete distal renal tubular acidosis and severe hereditary spherocytosis in an affected patient. 19625994

2009
dbSNP: rs121912755
rs121912755
SLC4A1
0.010 GeneticVariation BEFREE Immunofluorescence and co-immunoprecipitation studies using AE1 and an ER-localized hereditary spherocytosis mutant (R760Q AE1) showed that GPA and AE1 could interact in the ER. 19438409

2009
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.010 GeneticVariation BEFREE To investigate the presence of H63D and C282Y mutations in the HFE gene, patient II-I was found to be compound heterozygous and was the only family member presenting HS and this genetic condition in HFE. 12961032

2003