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rs1057517399

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517399(C;C)
Make rs1057517399(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151688290
GeneNEB
is asnp
is mentioned by
dbSNPrs1057517399
dbSNP (old)rs1057517399
ClinGenrs1057517399
ebirs1057517399
HLIrs1057517399
Exacrs1057517399
Gnomadrs1057517399
Varsomers1057517399
Maprs1057517399
PheGenIrs1057517399
Biobankrs1057517399
1000 genomesrs1057517399
hgdprs1057517399
ensemblrs1057517399
gopubmedrs1057517399
geneviewrs1057517399
scholarrs1057517399
googlers1057517399
pharmgkbrs1057517399
gwascentralrs1057517399
openSNPrs1057517399
23andMers1057517399
23andMe allrs1057517399
SNPshotrs1057517399
SNPdbers1057517399
MSV3drs1057517399
GWAS Ctlgrs1057517399
Max Magnitude0
ClinVar
Risk rs1057517399(C;C)
Alt rs1057517399(C;C)
Reference Rs1057517399(T;T)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152544804A>G
CLNSRC
CLNACC RCV000411510.1,