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rs797045098

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045098(C;C)
Make rs797045098(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position151503442
GeneNEB, RIF1
is asnp
is mentioned by
dbSNPrs797045098
ebirs797045098
HLIrs797045098
Exacrs797045098
Varsomers797045098
Maprs797045098
PheGenIrs797045098
hapmaprs797045098
1000 genomesrs797045098
hgdprs797045098
ensemblrs797045098
gopubmedrs797045098
geneviewrs797045098
scholarrs797045098
googlers797045098
pharmgkbrs797045098
gwascentralrs797045098
openSNPrs797045098
23andMers797045098
23andMe allrs797045098
SNP Nexus

SNPshotrs797045098
SNPdbers797045098
MSV3drs797045098
GWAS Ctlgrs797045098
Max Magnitude0
ClinVar
Risk rs797045098(C;C)
Alt rs797045098(C;C)
Reference rs797045098(G;G)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152359956C>G
CLNSRC
CLNACC RCV000190608.1,