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: rs61754966
rs61754966
NBN
C 0.720 CausalMutation CLINVAR

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: rs121918662
rs121918662
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 Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749

2009
dbSNP: rs121918661
rs121918661
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 Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594

2007
dbSNP: rs483352771
rs483352771
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 Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250

2006
dbSNP: rs121918662
rs121918662
TERT
0.700 GeneticVariation UNIPROT Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250

2006
dbSNP: rs483352771
rs483352771
TERT
0.700 GeneticVariation UNIPROT Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250

2006
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: 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: 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: rs113993992
rs113993992
SBDS
G 0.700 CausalMutation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
G 0.700 CausalMutation CLINVAR

dbSNP: rs149566858
rs149566858
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
C 0.700 CausalMutation CLINVAR

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: rs34094720
rs34094720
TERT
0.700 GeneticVariation UNIPROT

dbSNP: rs587782545
rs587782545
NBN
A 0.700 CausalMutation CLINVAR

dbSNP: rs730881864
rs730881864
NBN
A 0.700 GeneticVariation CLINVAR