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rs1057516524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516524(A;A)
Make rs1057516524(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12658291
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057516524
dbSNP (old)rs1057516524
ClinGenrs1057516524
ebirs1057516524
HLIrs1057516524
Exacrs1057516524
Gnomadrs1057516524
Varsomers1057516524
Maprs1057516524
PheGenIrs1057516524
Biobankrs1057516524
1000 genomesrs1057516524
hgdprs1057516524
ensemblrs1057516524
gopubmedrs1057516524
geneviewrs1057516524
scholarrs1057516524
googlers1057516524
pharmgkbrs1057516524
gwascentralrs1057516524
openSNPrs1057516524
23andMers1057516524
23andMe allrs1057516524
SNPshotrs1057516524
SNPdbers1057516524
MSV3drs1057516524
GWAS Ctlgrs1057516524
Max Magnitude0
ClinVar
Risk rs1057516524(A;A)
Alt rs1057516524(A;A)
Reference Rs1057516524(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.12769105C>T
CLNSRC
CLNACC RCV000409662.1,