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rs121434334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434334(C;C)
Make rs121434334(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position102657873
GeneMANBA
is asnp
is mentioned by
dbSNPrs121434334
ebirs121434334
HLIrs121434334
Exacrs121434334
Varsomers121434334
Maprs121434334
PheGenIrs121434334
hapmaprs121434334
1000 genomesrs121434334
hgdprs121434334
ensemblrs121434334
gopubmedrs121434334
geneviewrs121434334
scholarrs121434334
googlers121434334
pharmgkbrs121434334
gwascentralrs121434334
openSNPrs121434334
23andMers121434334
23andMe allrs121434334
SNP Nexus

SNPshotrs121434334
SNPdbers121434334
MSV3drs121434334
GWAS Ctlgrs121434334
Max Magnitude0
OMIM609489
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434334(C;C)
Alt rs121434334(C;C)
Reference rs121434334(T;T)
Significance Pathogenic
Disease Beta-D-mannosidosis
Variation info
Gene MANBA
CLNDBN Beta-D-mannosidosis
Reversed 1
HGVS NC_000004.11:g.103579030A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001747.5,