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rs797045736

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045736(G;T)
Make rs797045736(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position151691859
GeneNEB
is asnp
is mentioned by
dbSNPrs797045736
ebirs797045736
HLIrs797045736
Exacrs797045736
Varsomers797045736
Maprs797045736
PheGenIrs797045736
hapmaprs797045736
1000 genomesrs797045736
hgdprs797045736
ensemblrs797045736
gopubmedrs797045736
geneviewrs797045736
scholarrs797045736
googlers797045736
pharmgkbrs797045736
gwascentralrs797045736
openSNPrs797045736
23andMers797045736
23andMe allrs797045736
SNP Nexus

SNPshotrs797045736
SNPdbers797045736
MSV3drs797045736
GWAS Ctlgrs797045736
Max Magnitude0
ClinVar
Risk rs797045736(T;T)
Alt rs797045736(T;T)
Reference rs797045736(G;G)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.152548373C>A
CLNSRC
CLNACC RCV000193383.1,