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rs121434335

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434335(G;T)
Make rs121434335(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position102726614
GeneMANBA
is asnp
is mentioned by
dbSNPrs121434335
ebirs121434335
HLIrs121434335
Exacrs121434335
Varsomers121434335
Maprs121434335
PheGenIrs121434335
hapmaprs121434335
1000 genomesrs121434335
hgdprs121434335
ensemblrs121434335
gopubmedrs121434335
geneviewrs121434335
scholarrs121434335
googlers121434335
pharmgkbrs121434335
gwascentralrs121434335
openSNPrs121434335
23andMers121434335
23andMe allrs121434335
SNP Nexus

SNPshotrs121434335
SNPdbers121434335
MSV3drs121434335
GWAS Ctlgrs121434335
Max Magnitude0
OMIM609489
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434335(A,T;A,T)
Alt rs121434335(A,T;A,T)
Reference rs121434335(G;G)
Significance Pathogenic
Disease Beta-D-mannosidosis
Variation info
Gene MANBA
CLNDBN Beta-D-mannosidosis
Reversed 1
HGVS NC_000004.11:g.103647771C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001749.4,