Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
GBA
0.710 GeneticVariation BEFREE Six type 1 patients with L444P homozygous genotype, presented with early onset and severe hepatosplenomegaly. 27865684

2018
dbSNP: rs421016
rs421016
GBA
C 0.710 GeneticVariation CLINVAR

dbSNP: rs421016
rs421016
GBA
G 0.710 GeneticVariation CLINVAR

dbSNP: rs1559810905
rs1559810905
IFIH1
A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
dbSNP: rs1557196978
rs1557196978
ATP6AP1
G 0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028

2018
dbSNP: rs116928232
rs116928232
LIPA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121908302
rs121908302
GBA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1564875331
rs1564875331
HBB
TGATGCC 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs397518423
rs397518423
PIK3CD
A 0.700 CausalMutation CLINVAR

dbSNP: rs483352897
rs483352897
NAGLU
T 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
A 0.700 CausalMutation CLINVAR

dbSNP: rs747506979
rs747506979
GBA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs748830051
rs748830051
GLB1
T 0.700 CausalMutation CLINVAR

dbSNP: rs753520553
rs753520553
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs757788894
rs757788894
CLCN7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727931
rs794727931
ALG8
C 0.700 CausalMutation CLINVAR

dbSNP: rs80358263
rs80358263
NPC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912748
rs121912748
SLC4A1
0.010 GeneticVariation BEFREE A patient with compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia presented with hemolytic anemia and hepatosplenomegaly which was alleviated by alkaline therapy. 18266205

2008
dbSNP: rs751689316
rs751689316
MECOM
0.010 GeneticVariation BEFREE Interestingly, among integration sites identified, Evi1 seemed to collaborate with an AML1 mutant harboring a point mutation in the Runt homology domain (D171N) to induce MDS/AML with an identical phenotype characterized by marked hepatosplenomegaly, myeloid dysplasia, leukocytosis, and biphenotypic surface markers. 18192504

2008
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.010 GeneticVariation BEFREE We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. 16630947

2006
dbSNP: rs770407719
rs770407719
LIPA
0.010 GeneticVariation BEFREE Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD. 7773732

1995