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rs80338679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338679(A;A)
Make rs80338679(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12650103
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs80338679
ebirs80338679
HLIrs80338679
Exacrs80338679
Varsomers80338679
Maprs80338679
PheGenIrs80338679
hapmaprs80338679
1000 genomesrs80338679
hgdprs80338679
ensemblrs80338679
gopubmedrs80338679
geneviewrs80338679
scholarrs80338679
googlers80338679
pharmgkbrs80338679
gwascentralrs80338679
openSNPrs80338679
23andMers80338679
23andMe allrs80338679
SNP Nexus

SNPshotrs80338679
SNPdbers80338679
MSV3drs80338679
GWAS Ctlgrs80338679
Max Magnitude0
ClinVar
Risk rs80338679(A;A)
Alt rs80338679(A;A)
Reference rs80338679(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.12760917C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020366.1,


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