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rs587780399

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780399(A;A)
Make rs587780399(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position151677875
GeneNEB
is asnp
is mentioned by
dbSNPrs587780399
ebirs587780399
HLIrs587780399
Exacrs587780399
Varsomers587780399
Maprs587780399
PheGenIrs587780399
hapmaprs587780399
1000 genomesrs587780399
hgdprs587780399
ensemblrs587780399
gopubmedrs587780399
geneviewrs587780399
scholarrs587780399
googlers587780399
pharmgkbrs587780399
gwascentralrs587780399
openSNPrs587780399
23andMers587780399
23andMe allrs587780399
SNP Nexus

SNPshotrs587780399
SNPdbers587780399
MSV3drs587780399
GWAS Ctlgrs587780399
Max Magnitude0
ClinVar
Risk rs587780399(A;A)
Alt rs587780399(A;A)
Reference rs587780399(G;G)
Significance Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.152534389C>T
CLNSRC
CLNACC RCV000117756.1,