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rs1057516938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057516938(-;-)
Make rs1057516938(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151688315
GeneNEB
is asnp
is mentioned by
dbSNPrs1057516938
dbSNP (classic)rs1057516938
ClinGenrs1057516938
ebirs1057516938
HLIrs1057516938
Exacrs1057516938
Gnomadrs1057516938
Varsomers1057516938
LitVarrs1057516938
Maprs1057516938
PheGenIrs1057516938
Biobankrs1057516938
1000 genomesrs1057516938
hgdprs1057516938
ensemblrs1057516938
geneviewrs1057516938
scholarrs1057516938
googlers1057516938
pharmgkbrs1057516938
gwascentralrs1057516938
openSNPrs1057516938
23andMers1057516938
23andMe allrs1057516938
SNPshotrs1057516938
SNPdbers1057516938
MSV3drs1057516938
GWAS Ctlgrs1057516938
Max Magnitude0
ClinVar
Risk rs1057516938(-;-)
Alt rs1057516938(-;-)
Reference Rs1057516938(AG;AG)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152544829_152544830delCT
CLNSRC
CLNACC RCV000411276.1,