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rs111293259

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111293259(C;G)
Make rs111293259(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position151677564
GeneNEB
is asnp
is mentioned by
dbSNPrs111293259
ebirs111293259
HLIrs111293259
Exacrs111293259
Varsomers111293259
Maprs111293259
PheGenIrs111293259
hapmaprs111293259
1000 genomesrs111293259
hgdprs111293259
ensemblrs111293259
gopubmedrs111293259
geneviewrs111293259
scholarrs111293259
googlers111293259
pharmgkbrs111293259
gwascentralrs111293259
openSNPrs111293259
23andMers111293259
23andMe allrs111293259
SNP Nexus

SNPshotrs111293259
SNPdbers111293259
MSV3drs111293259
GWAS Ctlgrs111293259
Max Magnitude0
ClinVar
Risk rs111293259(G,T;G,T)
Alt rs111293259(G,T;G,T)
Reference rs111293259(C;C)
Significance Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.152534078C>T
CLNSRC
CLNACC RCV000193737.1,