Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34094720
rs34094720
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs36084323
rs36084323
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: 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: rs587782545
rs587782545
NBN
A 0.700 CausalMutation CLINVAR

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
C 0.720 CausalMutation CLINVAR

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

2004
dbSNP: rs730881864
rs730881864
NBN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs731236
rs731236
VDR
0.010 GeneticVariation BEFREE The aim of this study was to investigate the role of VDR polymorphisms (rs2228570, rs1544410, rs7975232, and rs731236) in aplastic anemia (AA). 27018192

2016
dbSNP: rs744166
rs744166
STAT3
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
dbSNP: rs7574862
rs7574862
KCNIP3
0.010 GeneticVariation BEFREE We investigated the distributions of TBX21 (T-1993C and T-1514C) and STAT4 (rs7574862) polymorphisms in 202 adult patients with AA and 195 healthy controls by polymerase chain reaction-restriction fragment length polymorphism. 22133489

2012
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: rs767215758
rs767215758
NBN
A 0.700 CausalMutation CLINVAR

dbSNP: rs7975232
rs7975232
VDR
0.010 GeneticVariation BEFREE Further analysis indicated that rs1544410 and rs7975232 polymorphisms were correlated with the risk to nonsevere AA, while rs2228570 was relevant to severe AA. 27018192

2016