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rs80338680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338680(C;T)
Make rs80338680(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12649932
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs80338680
ebirs80338680
HLIrs80338680
Exacrs80338680
Varsomers80338680
Maprs80338680
PheGenIrs80338680
hapmaprs80338680
1000 genomesrs80338680
hgdprs80338680
ensemblrs80338680
gopubmedrs80338680
geneviewrs80338680
scholarrs80338680
googlers80338680
pharmgkbrs80338680
gwascentralrs80338680
openSNPrs80338680
23andMers80338680
23andMe allrs80338680
SNP Nexus

SNPshotrs80338680
SNPdbers80338680
MSV3drs80338680
GWAS Ctlgrs80338680
GMAF0.0004591
Max Magnitude0
OMIM609458
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338680(A,T;A,T)
Alt rs80338680(A,T;A,T)
Reference rs80338680(C;C)
Significance Other
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12760746G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001755.5,


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