{{Rsnum
|rsid=80358246
|Gene=NEB
|Chromosome=2
|position=151645758
|Orientation=minus
|geno1=(D;D)
|geno2=(D;I)
|geno3=(I;I)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NEB
}}The absence of this SNP may be diagnostic for a 2,502bp deletion found at a (carrier) frequency of about 1 in 100 [[Ashkenazi Jews]], and if so, it is associated with [[Nemaline myopathy]] (NEM2), a recessively inherited disorder.

{{omim
|id=161650
|rsnum=80358246
|variant=0007
}}{{PMID Auto
|PMID=15221447
|Title=Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
}}