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rs80338678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338678(A;G)
Make rs80338678(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12652462
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs80338678
dbSNP (old)rs80338678
ClinGenrs80338678
ebirs80338678
HLIrs80338678
Exacrs80338678
Gnomadrs80338678
Varsomers80338678
Maprs80338678
PheGenIrs80338678
Biobankrs80338678
1000 genomesrs80338678
hgdprs80338678
ensemblrs80338678
gopubmedrs80338678
geneviewrs80338678
scholarrs80338678
googlers80338678
pharmgkbrs80338678
gwascentralrs80338678
openSNPrs80338678
23andMers80338678
23andMe allrs80338678
SNP Nexus

SNPshotrs80338678
SNPdbers80338678
MSV3drs80338678
GWAS Ctlgrs80338678
Max Magnitude0
ClinVar
Risk rs80338678(G;G)
Alt rs80338678(G;G)
Reference Rs80338678(A;A)
Significance Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12763276T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020365.1,


[PMID 9915946OA-icon.png] Spectrum of mutations in alpha-mannosidosis.