Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052954321
rs1052954321
ALPK1
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659

2019
dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs113993993
rs113993993
SBDS
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 CausalMutation CLINVAR

dbSNP: rs120074160
rs120074160
SBDS
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554851718
rs1554851718
FAS
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555366607
rs1555366607
SPTB
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1564691414
rs1564691414
FAS
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1567705064
rs1567705064
G6PC
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 CausalMutation CLINVAR

dbSNP: rs41469945
rs41469945
HBA2
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		C 0.700 CausalMutation CLINVAR

dbSNP: rs756881285
rs756881285
ADA2
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs770418305
rs770418305
NEK4
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		AT 0.700 GeneticVariation CLINVAR

dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853314
rs878853314
GBA
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853315
rs878853315
GBA
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853317
rs878853317
GBA
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853320
rs878853320
GBA
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853321
rs878853321
GBA
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		G 0.700 GeneticVariation CLINVAR