DisGeNET - a database of gene-disease associations

Variant: rs138047632 ×

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:

rs138047632

SLC19A1 ; LOC107987304

0.010

GeneticVariation

BEFREE

A missense mutation affecting the 11th transmembrane domain of RFC (c.1250T>C; p.I417T) was found in one case of ALL at diagnosis.

2008