DisGeNET - a database of gene-disease associations

Spinal Muscular Atrophy, C0026847

Variant: rs1217001154 ×

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:

rs1217001154

rs1217001154

SMN1 ; SMN2

A

0.700

CausalMutation

CLINVAR

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

2010