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rs1057517360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517360(C;T)
Make rs1057517360(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151724952
GeneNEB
is asnp
is mentioned by
dbSNPrs1057517360
dbSNP (old)rs1057517360
ClinGenrs1057517360
ebirs1057517360
HLIrs1057517360
Exacrs1057517360
Gnomadrs1057517360
Varsomers1057517360
Maprs1057517360
PheGenIrs1057517360
Biobankrs1057517360
1000 genomesrs1057517360
hgdprs1057517360
ensemblrs1057517360
gopubmedrs1057517360
geneviewrs1057517360
scholarrs1057517360
googlers1057517360
pharmgkbrs1057517360
gwascentralrs1057517360
openSNPrs1057517360
23andMers1057517360
23andMe allrs1057517360
SNPshotrs1057517360
SNPdbers1057517360
MSV3drs1057517360
GWAS Ctlgrs1057517360
Max Magnitude0
ClinVar
Risk rs1057517360(T;T)
Alt rs1057517360(T;T)
Reference Rs1057517360(C;C)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152581466G>A
CLNSRC
CLNACC RCV000411613.1,