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rs1057516739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GATGT;GATGT) 0 common in clinvar
Make rs1057516739(-;-)
Make rs1057516739(-;GATGT)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151695576
GeneNEB
is asnp
is mentioned by
dbSNPrs1057516739
dbSNP (old)rs1057516739
ClinGenrs1057516739
ebirs1057516739
HLIrs1057516739
Exacrs1057516739
Gnomadrs1057516739
Varsomers1057516739
LitVarrs1057516739
Maprs1057516739
PheGenIrs1057516739
Biobankrs1057516739
1000 genomesrs1057516739
hgdprs1057516739
ensemblrs1057516739
gopubmedrs1057516739
geneviewrs1057516739
scholarrs1057516739
googlers1057516739
pharmgkbrs1057516739
gwascentralrs1057516739
openSNPrs1057516739
23andMers1057516739
23andMe allrs1057516739
SNPshotrs1057516739
SNPdbers1057516739
MSV3drs1057516739
GWAS Ctlgrs1057516739
Max Magnitude0
ClinVar
Risk rs1057516739(-;-)
Alt rs1057516739(-;-)
Reference Rs1057516739(GATGT;GATGT)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152552090_152552094delACATC
CLNSRC
CLNACC RCV000410803.1,