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rs121434331

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434331(C;T)
Make rs121434331(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12649418
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs121434331
ebirs121434331
HLIrs121434331
Exacrs121434331
Varsomers121434331
Maprs121434331
PheGenIrs121434331
hapmaprs121434331
1000 genomesrs121434331
hgdprs121434331
ensemblrs121434331
gopubmedrs121434331
geneviewrs121434331
scholarrs121434331
googlers121434331
pharmgkbrs121434331
gwascentralrs121434331
openSNPrs121434331
23andMers121434331
23andMe allrs121434331
SNP Nexus

SNPshotrs121434331
SNPdbers121434331
MSV3drs121434331
GWAS Ctlgrs121434331
Max Magnitude0
OMIM609458
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434331(T;T)
Alt rs121434331(T;T)
Reference rs121434331(C;C)
Significance Other
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12760232G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001753.5,