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rs80338681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338681(C;C)
Make rs80338681(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12649146
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs80338681
ebirs80338681
HLIrs80338681
Exacrs80338681
Varsomers80338681
Maprs80338681
PheGenIrs80338681
hapmaprs80338681
1000 genomesrs80338681
hgdprs80338681
ensemblrs80338681
gopubmedrs80338681
geneviewrs80338681
scholarrs80338681
googlers80338681
pharmgkbrs80338681
gwascentralrs80338681
openSNPrs80338681
23andMers80338681
23andMe allrs80338681
SNP Nexus

SNPshotrs80338681
SNPdbers80338681
MSV3drs80338681
GWAS Ctlgrs80338681
Max Magnitude0
ClinVar
Risk rs80338681(C;C)
Alt rs80338681(C;C)
Reference rs80338681(T;T)
Significance Other
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12759960A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020367.7,


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