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rs1057516864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516864(-;C)
Make rs1057516864(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12647460
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057516864
dbSNP (old)rs1057516864
ClinGenrs1057516864
ebirs1057516864
HLIrs1057516864
Exacrs1057516864
Gnomadrs1057516864
Varsomers1057516864
LitVarrs1057516864
Maprs1057516864
PheGenIrs1057516864
Biobankrs1057516864
1000 genomesrs1057516864
hgdprs1057516864
ensemblrs1057516864
gopubmedrs1057516864
geneviewrs1057516864
scholarrs1057516864
googlers1057516864
pharmgkbrs1057516864
gwascentralrs1057516864
openSNPrs1057516864
23andMers1057516864
23andMe allrs1057516864
SNPshotrs1057516864
SNPdbers1057516864
MSV3drs1057516864
GWAS Ctlgrs1057516864
Max Magnitude0
ClinVar
Risk rs1057516864(C;C)
Alt rs1057516864(C;C)
Reference Rs1057516864(-;-)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12758275dupG
CLNSRC
CLNACC RCV000409219.1,