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rs80338677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338677(C;C)
Make rs80338677(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12655693
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs80338677
ebirs80338677
HLIrs80338677
Exacrs80338677
Varsomers80338677
Maprs80338677
PheGenIrs80338677
hapmaprs80338677
1000 genomesrs80338677
hgdprs80338677
ensemblrs80338677
gopubmedrs80338677
geneviewrs80338677
scholarrs80338677
googlers80338677
pharmgkbrs80338677
gwascentralrs80338677
openSNPrs80338677
23andMers80338677
23andMe allrs80338677
SNP Nexus

SNPshotrs80338677
SNPdbers80338677
MSV3drs80338677
GWAS Ctlgrs80338677
Max Magnitude0
ClinVar
Risk rs80338677(C;C)
Alt rs80338677(C;C)
Reference rs80338677(G;G)
Significance Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12766507C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020364.4,


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