Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918664
rs121918664
TERT
0.010 GeneticVariation BEFREE Three of the four variants (T726M, A1062T, and V1090M) were previously observed in patients with other telomere diseases (severe aplastic anemia, acute myeloid leukemia, and cirrhosis). 28813500

2017
dbSNP: rs137852986
rs137852986
BRIP1
0.010 GeneticVariation BEFREE Four patients with severe aplastic anemia (SAA) had c.2392C > T (p.Arg798*) BRIP1/FANCJ mutation. 26968956

2016
dbSNP: rs770965402
rs770965402
PALB2
0.010 GeneticVariation BEFREE Another child with SAA had novel c.1475T > C (p.Leu492Pro) FANCC mutation. 26968956

2016
dbSNP: rs786202916
rs786202916
BRCA2
0.010 GeneticVariation BEFREE Another child with SAA had novel c.1475T > C (p.Leu492Pro) FANCC mutation. 26968956

2016