DisGeNET - a database of gene-disease associations

Hepatosplenomegaly, C0019214

Variant: rs421016 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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.

2018

dbSNP:

rs421016

rs421016

GBA

C

0.710

GeneticVariation

CLINVAR

dbSNP:

rs421016

rs421016

GBA

G

0.710

GeneticVariation

CLINVAR