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rs121434336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434336(C;T)
Make rs121434336(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position102669004
GeneMANBA
is asnp
is mentioned by
dbSNPrs121434336
dbSNP (classic)rs121434336
ClinGenrs121434336
ebirs121434336
HLIrs121434336
Exacrs121434336
Gnomadrs121434336
Varsomers121434336
LitVarrs121434336
Maprs121434336
PheGenIrs121434336
Biobankrs121434336
1000 genomesrs121434336
hgdprs121434336
ensemblrs121434336
geneviewrs121434336
scholarrs121434336
googlers121434336
pharmgkbrs121434336
gwascentralrs121434336
openSNPrs121434336
23andMers121434336
SNPshotrs121434336
SNPdbers121434336
MSV3drs121434336
GWAS Ctlgrs121434336
Max Magnitude0
OMIM609489
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121434336(G;G) rs121434336(T;T)
Alt rs121434336(G;G) rs121434336(T;T)
Reference Rs121434336(C;C)
Significance Pathogenic
Disease Beta-D-mannosidosis
Variation info
Gene MANBA
CLNDBN Beta-D-mannosidosis
Reversed 1
HGVS NC_000004.11:g.103590161G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001750.4,