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rs80358246

From SNPedia

Orientationminus
Stabilizedminus
Make rs80358246(D;D)
Make rs80358246(D;I)
Make rs80358246(I;I)
ReferenceGRCh38 38.1/141
Chromosome2
Position151645758
GeneNEB
is asnp
is mentioned by
dbSNPrs80358246
ebirs80358246
HLIrs80358246
Exacrs80358246
Varsomers80358246
Maprs80358246
PheGenIrs80358246
hapmaprs80358246
1000 genomesrs80358246
hgdprs80358246
ensemblrs80358246
gopubmedrs80358246
geneviewrs80358246
scholarrs80358246
googlers80358246
pharmgkbrs80358246
gwascentralrs80358246
openSNPrs80358246
23andMers80358246
23andMe allrs80358246
SNP Nexus

SNPshotrs80358246
SNPdbers80358246
MSV3drs80358246
GWAS Ctlgrs80358246
Max Magnitude
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.
OMIM161650
Desc
Variant0007
Relatedalso

[PMID 15221447] Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.