DisGeNET - a database of gene-disease associations

Splenic Hypoplasia, C0685889

Variant: rs397514762 ×

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:

rs397514762

rs397514762

RPSA ; SNORA6

0.800

GeneticVariation

UNIPROT

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

2013

dbSNP:

rs397514762

rs397514762

RPSA ; SNORA6

A

0.800

CausalMutation

CLINVAR