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rs121434333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434333(C;G)
Make rs121434333(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12658470
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs121434333
ebirs121434333
HLIrs121434333
Exacrs121434333
Varsomers121434333
Maprs121434333
PheGenIrs121434333
hapmaprs121434333
1000 genomesrs121434333
hgdprs121434333
ensemblrs121434333
gopubmedrs121434333
geneviewrs121434333
scholarrs121434333
googlers121434333
pharmgkbrs121434333
gwascentralrs121434333
openSNPrs121434333
23andMers121434333
23andMe allrs121434333
SNP Nexus

SNPshotrs121434333
SNPdbers121434333
MSV3drs121434333
GWAS Ctlgrs121434333
Max Magnitude0
OMIM609458
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434333(G;G)
Alt rs121434333(G;G)
Reference rs121434333(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.12769284G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001756.4,