Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61754966
rs61754966
NBN
0.720 GeneticVariation BEFREE In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability. 24830725

2014
dbSNP: rs61754966
rs61754966
NBN
0.720 GeneticVariation BEFREE This is the first report of AA with a homozygous I171V mutation. 15338273

2004
dbSNP: rs121918661
rs121918661
TERT
0.700 GeneticVariation UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610

2005
dbSNP: rs121918661
rs121918661
TERT
0.700 GeneticVariation UNIPROT Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594

2007
dbSNP: rs121918661
rs121918661
TERT
0.700 GeneticVariation UNIPROT Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749

2009
dbSNP: rs121918661
rs121918661
TERT
0.700 GeneticVariation UNIPROT Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250

2006
dbSNP: rs121918662
rs121918662
TERT
0.700 GeneticVariation UNIPROT Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749

2009
dbSNP: rs121918662
rs121918662
TERT
0.700 GeneticVariation UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610

2005
dbSNP: rs121918662
rs121918662
TERT
0.700 GeneticVariation UNIPROT Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594

2007
dbSNP: rs121918662
rs121918662
TERT
0.700 GeneticVariation UNIPROT Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250

2006
dbSNP: rs149566858
rs149566858
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs199422294
rs199422294
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs199422295
rs199422295
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs34094720
rs34094720
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs483352771
rs483352771
TERT
0.700 GeneticVariation UNIPROT Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749

2009
dbSNP: rs483352771
rs483352771
TERT
0.700 GeneticVariation UNIPROT Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594

2007
dbSNP: rs483352771
rs483352771
TERT
0.700 GeneticVariation UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610

2005
dbSNP: rs483352771
rs483352771
TERT
0.700 GeneticVariation UNIPROT Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250

2006
dbSNP: rs231775
rs231775
CTLA4
0.020 GeneticVariation BEFREE The GG genotype of SNP rs231775 in CTLA-4 gene might be associated with AA risk in the Chinese population. 27036622

2016
dbSNP: rs231775
rs231775
CTLA4
0.020 GeneticVariation BEFREE This study indicates that the polymorphisms -318C > T and 49A > G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression. 15812539

2005
dbSNP: rs7574865
rs7574865
STAT4
0.020 GeneticVariation BEFREE The T allele (TT + TG genotypes) of STAT4 variant rs7574865 was associated with increased susceptibility of Chinese people to AA. 22133489

2012
dbSNP: rs7574865
rs7574865
STAT4
0.020 GeneticVariation BEFREE Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China. 29330562

2018
dbSNP: rs10204525
rs10204525
PDCD1
0.010 GeneticVariation BEFREE In order to study the correlation between PD-1 gene polymorphism and aplastic anemia in a Chinese Han population, two SNPs, PD-1.1 G/A (rs36084323) and PD-1.6 G/A (rs10204525), were genotyped in 166 patients with aplastic anemia and 144 healthy controls by direct sequencing. 23373967

2013
dbSNP: rs10818488
rs10818488
C5-OT1
0.010 GeneticVariation BEFREE Our results indicated that TRAF1/C5 rs10818488 polymorphism might not contribute to susceptibility to AA in a Chinese population. 25500258

2015
dbSNP: rs11209032
rs11209032 		0.010 GeneticVariation BEFREE Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China. 29330562

2018