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rs1057516275

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516275(-;-)
Make rs1057516275(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36227371
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516275
dbSNP (old)rs1057516275
ClinGenrs1057516275
ebirs1057516275
HLIrs1057516275
Exacrs1057516275
Gnomadrs1057516275
Varsomers1057516275
Maprs1057516275
PheGenIrs1057516275
Biobankrs1057516275
1000 genomesrs1057516275
hgdprs1057516275
ensemblrs1057516275
gopubmedrs1057516275
geneviewrs1057516275
scholarrs1057516275
googlers1057516275
pharmgkbrs1057516275
gwascentralrs1057516275
openSNPrs1057516275
23andMers1057516275
23andMe allrs1057516275
SNPshotrs1057516275
SNPdbers1057516275
MSV3drs1057516275
GWAS Ctlgrs1057516275
Max Magnitude0
ClinVar
Risk rs1057516275(-;-)
Alt rs1057516275(-;-)
Reference Rs1057516275(A;A)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36227368delT
CLNSRC
CLNACC RCV000409869.1,