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rs1057516676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516676(C;T)
Make rs1057516676(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151643272
GeneNEB
is asnp
is mentioned by
dbSNPrs1057516676
dbSNP (old)rs1057516676
ClinGenrs1057516676
ebirs1057516676
HLIrs1057516676
Exacrs1057516676
Gnomadrs1057516676
Varsomers1057516676
Maprs1057516676
PheGenIrs1057516676
Biobankrs1057516676
1000 genomesrs1057516676
hgdprs1057516676
ensemblrs1057516676
gopubmedrs1057516676
geneviewrs1057516676
scholarrs1057516676
googlers1057516676
pharmgkbrs1057516676
gwascentralrs1057516676
openSNPrs1057516676
23andMers1057516676
23andMe allrs1057516676
SNPshotrs1057516676
SNPdbers1057516676
MSV3drs1057516676
GWAS Ctlgrs1057516676
Max Magnitude0
ClinVar
Risk rs1057516676(T;T)
Alt rs1057516676(T;T)
Reference Rs1057516676(C;C)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152499786G>A
CLNSRC
CLNACC RCV000409018.1,