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rs121434332

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434332(C;T)
Make rs121434332(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12652376
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs121434332
ebirs121434332
HLIrs121434332
Exacrs121434332
Varsomers121434332
Maprs121434332
PheGenIrs121434332
hapmaprs121434332
1000 genomesrs121434332
hgdprs121434332
ensemblrs121434332
gopubmedrs121434332
geneviewrs121434332
scholarrs121434332
googlers121434332
pharmgkbrs121434332
gwascentralrs121434332
openSNPrs121434332
23andMers121434332
23andMe allrs121434332
SNP Nexus

SNPshotrs121434332
SNPdbers121434332
MSV3drs121434332
GWAS Ctlgrs121434332
Max Magnitude0
OMIM609458
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434332(T;T)
Alt rs121434332(T;T)
Reference Rs121434332(C;C)
Significance Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12763190G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001754.3,