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rs1057516906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516906(C;T)
Make rs1057516906(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36236946
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516906
dbSNP (old)rs1057516906
ClinGenrs1057516906
ebirs1057516906
HLIrs1057516906
Exacrs1057516906
Gnomadrs1057516906
Varsomers1057516906
Maprs1057516906
PheGenIrs1057516906
Biobankrs1057516906
1000 genomesrs1057516906
hgdprs1057516906
ensemblrs1057516906
gopubmedrs1057516906
geneviewrs1057516906
scholarrs1057516906
googlers1057516906
pharmgkbrs1057516906
gwascentralrs1057516906
openSNPrs1057516906
23andMers1057516906
23andMe allrs1057516906
SNPshotrs1057516906
SNPdbers1057516906
MSV3drs1057516906
GWAS Ctlgrs1057516906
Max Magnitude0
ClinVar
Risk rs1057516906(T;T)
Alt rs1057516906(T;T)
Reference Rs1057516906(C;C)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36236943G>A
CLNSRC
CLNACC RCV000412423.1,