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rs1057516745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516745(G;T)
Make rs1057516745(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12658062
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057516745
dbSNP (old)rs1057516745
ClinGenrs1057516745
ebirs1057516745
HLIrs1057516745
Exacrs1057516745
Gnomadrs1057516745
Varsomers1057516745
Maprs1057516745
PheGenIrs1057516745
Biobankrs1057516745
1000 genomesrs1057516745
hgdprs1057516745
ensemblrs1057516745
gopubmedrs1057516745
geneviewrs1057516745
scholarrs1057516745
googlers1057516745
pharmgkbrs1057516745
gwascentralrs1057516745
openSNPrs1057516745
23andMers1057516745
23andMe allrs1057516745
SNPshotrs1057516745
SNPdbers1057516745
MSV3drs1057516745
GWAS Ctlgrs1057516745
Max Magnitude0
ClinVar
Risk rs1057516745(T;T)
Alt rs1057516745(T;T)
Reference Rs1057516745(G;G)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12768876C>A
CLNSRC
CLNACC RCV000412292.1,