Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs113993992
rs113993992
SBDS
G 0.700 CausalMutation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
G 0.700 CausalMutation CLINVAR

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: rs1353528671
rs1353528671
ACTA2 ; FAS
0.010 GeneticVariation BEFREE Concerning TGFB1, although its polymorphisms are not related to AA susceptibility, P10L T allele (recessive model, OR = 0.18, p = .038) and CT haplotype (dominant model, OR = 5.68, p = .038) were associated with response to IST. 20953611

2011
dbSNP: rs149566858
rs149566858
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs1544410
rs1544410
VDR
0.010 GeneticVariation BEFREE The frequencies of GG genotype and G allele of rs1544410 were significantly higher in patients with AA than in controls. 27018192

2016
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.010 GeneticVariation BEFREE The results suggest that H63D mutations may not have clinical significance in Chinese patients with MDS and AA. 20563578

2010
dbSNP: rs1800470
rs1800470
TGFB1
0.010 GeneticVariation BEFREE Concerning TGFB1, although its polymorphisms are not related to AA susceptibility, P10L T allele (recessive model, OR = 0.18, p = .038) and CT haplotype (dominant model, OR = 5.68, p = .038) were associated with response to IST. 20953611

2011
dbSNP: rs193302875
rs193302875
PRF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs199422294
rs199422294
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs199422295
rs199422295
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs2228570
rs2228570
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
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