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rs1057516381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516381(G;T)
Make rs1057516381(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151674585
GeneNEB
is asnp
is mentioned by
dbSNPrs1057516381
dbSNP (old)rs1057516381
ClinGenrs1057516381
ebirs1057516381
HLIrs1057516381
Exacrs1057516381
Gnomadrs1057516381
Varsomers1057516381
LitVarrs1057516381
Maprs1057516381
PheGenIrs1057516381
Biobankrs1057516381
1000 genomesrs1057516381
hgdprs1057516381
ensemblrs1057516381
gopubmedrs1057516381
geneviewrs1057516381
scholarrs1057516381
googlers1057516381
pharmgkbrs1057516381
gwascentralrs1057516381
openSNPrs1057516381
23andMers1057516381
23andMe allrs1057516381
SNPshotrs1057516381
SNPdbers1057516381
MSV3drs1057516381
GWAS Ctlgrs1057516381
Max Magnitude0
ClinVar
Risk rs1057516381(T;T)
Alt rs1057516381(T;T)
Reference Rs1057516381(G;G)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152531099C>A
CLNSRC
CLNACC RCV000411004.1,