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rs1057516996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516996(A;A)
Make rs1057516996(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151650380
GeneNEB
is asnp
is mentioned by
dbSNPrs1057516996
dbSNP (old)rs1057516996
ClinGenrs1057516996
ebirs1057516996
HLIrs1057516996
Exacrs1057516996
Gnomadrs1057516996
Varsomers1057516996
Maprs1057516996
PheGenIrs1057516996
Biobankrs1057516996
1000 genomesrs1057516996
hgdprs1057516996
ensemblrs1057516996
gopubmedrs1057516996
geneviewrs1057516996
scholarrs1057516996
googlers1057516996
pharmgkbrs1057516996
gwascentralrs1057516996
openSNPrs1057516996
23andMers1057516996
23andMe allrs1057516996
SNPshotrs1057516996
SNPdbers1057516996
MSV3drs1057516996
GWAS Ctlgrs1057516996
Max Magnitude0
ClinVar
Risk rs1057516996(A;A)
Alt rs1057516996(A;A)
Reference Rs1057516996(G;G)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152506894C>T
CLNSRC
CLNACC RCV000412054.1,