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rs587780397

From SNPedia

Orientationminus
Geno Mag Summary
(CTTAT;CTTAT) 0 common in clinvar
Make rs587780397(CTTAT;GAG)
Make rs587780397(GAG;GAG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position151553413
GeneNEB
is asnp
is mentioned by
dbSNPrs587780397
ebirs587780397
HLIrs587780397
Exacrs587780397
Varsomers587780397
Maprs587780397
PheGenIrs587780397
hapmaprs587780397
1000 genomesrs587780397
hgdprs587780397
ensemblrs587780397
gopubmedrs587780397
geneviewrs587780397
scholarrs587780397
googlers587780397
pharmgkbrs587780397
gwascentralrs587780397
openSNPrs587780397
23andMers587780397
23andMe allrs587780397
SNP Nexus

SNPshotrs587780397
SNPdbers587780397
MSV3drs587780397
GWAS Ctlgrs587780397
Max Magnitude0
ClinVar
Risk rs587780397(GAG;GAG)
Alt rs587780397(GAG;GAG)
Reference rs587780397(CTTAT;CTTAT)
Significance Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.152409927_152409931delATAAGinsCTC
CLNSRC
CLNACC RCV000117719.1,