Gene: SMN2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554066397
rs1554066397
SMN1 ; SMN2
G 0.700 CausalMutation CLINVAR Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 9837824

1998