Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561498701
rs1561498701
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
AGGATTCCG 0.700 CausalMutation CLINVAR A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 24498607

2013