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rs1057516758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516758(-;-)
Make rs1057516758(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151658088
GeneNEB
is asnp
is mentioned by
dbSNPrs1057516758
dbSNP (old)rs1057516758
ClinGenrs1057516758
ebirs1057516758
HLIrs1057516758
Exacrs1057516758
Gnomadrs1057516758
Varsomers1057516758
LitVarrs1057516758
Maprs1057516758
PheGenIrs1057516758
Biobankrs1057516758
1000 genomesrs1057516758
hgdprs1057516758
ensemblrs1057516758
gopubmedrs1057516758
geneviewrs1057516758
scholarrs1057516758
googlers1057516758
pharmgkbrs1057516758
gwascentralrs1057516758
openSNPrs1057516758
23andMers1057516758
23andMe allrs1057516758
SNPshotrs1057516758
SNPdbers1057516758
MSV3drs1057516758
GWAS Ctlgrs1057516758
Max Magnitude0
ClinVar
Risk rs1057516758(-;-)
Alt rs1057516758(-;-)
Reference Rs1057516758(A;A)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152514602delT
CLNSRC
CLNACC RCV000410551.1,