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rs7426114

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 0
Make rs7426114(C;C)
Make rs7426114(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position151671058
GeneNEB
is asnp
is mentioned by
dbSNPrs7426114
dbSNP (old)rs7426114
ClinGenrs7426114
ebirs7426114
HLIrs7426114
Exacrs7426114
Gnomadrs7426114
Varsomers7426114
Maprs7426114
PheGenIrs7426114
Biobankrs7426114
1000 genomesrs7426114
hgdprs7426114
ensemblrs7426114
gopubmedrs7426114
geneviewrs7426114
scholarrs7426114
googlers7426114
pharmgkbrs7426114
gwascentralrs7426114
openSNPrs7426114
23andMers7426114
23andMe allrs7426114
SNPshotrs7426114
SNPdbers7426114
MSV3drs7426114
GWAS Ctlgrs7426114
GMAF0.4302
Max Magnitude0
? (C;C) (C;T) (T;T) 28



ClinVar
Risk rs7426114(T;T)
Alt rs7426114(T;T)
Reference rs7426114(C;C)
Significance Other
Disease not specified Nemaline Myopathy
Variation info
Gene NEB
CLNDBN not specified Nemaline Myopathy, Recessive
Reversed 0
HGVS NC_000002.11:g.152527572C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000081137.10, RCV000348796.1,