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rs794727136

From SNPedia

Orientationminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs794727136(-;-)
Make rs794727136(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position151493781
GeneNEB, RIF1
is asnp
is mentioned by
dbSNPrs794727136
ebirs794727136
HLIrs794727136
Exacrs794727136
Varsomers794727136
Maprs794727136
PheGenIrs794727136
hapmaprs794727136
1000 genomesrs794727136
hgdprs794727136
ensemblrs794727136
gopubmedrs794727136
geneviewrs794727136
scholarrs794727136
googlers794727136
pharmgkbrs794727136
gwascentralrs794727136
openSNPrs794727136
23andMers794727136
23andMe allrs794727136
SNP Nexus

SNPshotrs794727136
SNPdbers794727136
MSV3drs794727136
GWAS Ctlgrs794727136
Max Magnitude0
ClinVar
Risk rs794727136(;)
Alt rs794727136(;)
Reference rs794727136(TT;TT)
Significance Pathogenic
Disease Nemaline myopathy 2 Inborn genetic diseases
Variation info
Gene LOC101929336 NEB
CLNDBN Nemaline myopathy 2 Inborn genetic diseases
Reversed 1
HGVS NC_000002.11:g.152350295_152350296delAA
CLNSRC
CLNACC RCV000174822.1, RCV000190735.1,